References

Abu-Arefeh I & Russell G (1994) Prevalence of headache and migraine in schoolchildren. Br Med J 309: 765-769.

Adams HP Jr, Kappelle LJ, Biller J, Gordon DL, Love BB, Gomez F & Heffner M (1995) Ischemic stroke in young adults. Experience in 329 patients enrolled in the Iowa Registry of Stroke in Young Adults. Arch Neurol 52: 491-495.

Alberts B, Bray D, Lewis J, Raff M, Roberts K & Watson JD (1994) Energy conversion: Mitochondria and chloroplasts. In: Alberts B, Bray D, Lewis J, Raff M, Roberts K, Watson JD (eds) Molecular biology of the cell. Garland Publishing, Inc., New York, pp 653-720.

Allard JC, Tilak S & Carter AP (1988) CT and MR in MELAS syndrome. AJNR Am J Neuroradio 9: 1234-1238.

Alonso A, Martin P, Albarran C, Garcia O & Sancho M (1996) Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase chain reaction and single-stranded conformation analysis in mutation detection enhancement gels. Electrophoresis 17: 1299-1301.

Andermann F, Lugaresi E, Dvorkin GS & Montagna P (1986) Malignant migraine: The syndrome of prolonged classical migraine, epilepsia partialis continua, and repeated strokes: A clinically characteristic disorder probably due to mitochondrial encephalopathy. Funct Neurol 1: 481-486.

Anderson S, Bankier AT, Barrel BG, De Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Sanger F, Schreier PH, Smith AJH, Staden R & Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465.

Arnason U, Xu X & Gullberg A (1996) Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences. J Mol Evol 42: 145-152.

Askanas V, Engel WK, Britton DE, Adornato BT & Eiben RM (1978) Reincarnation in cultured muscle of mitochondrial abnormalities: two patients with epilepsy and lactic acidosis. Arch Neurol 35: 801-809.

Attardi G & Montoya J (1983) Analysis of human mitochondrial RNA. Methods Enzymol 97: 435-469.

Attardi G, Chomyn A, Montoya J & Ojala D (1982) Identification and mapping of human mitochondrial genes. Cytogenet Cell Genet 32: 85-98.

Ausenda C & Chomyn A (1996) purification of mitochondrial DNA from human cell cultures and placenta. Methods Enzymol 264: 122-128.

Avise JC (1986) Mitochondrial DNA and the evolutionary genetics of higher animals. Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences. 312: 325-342.

Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak Ma, Koonts DA & Wallace DC (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kB mitohcondrial DNA deletion. Nat Genet 1: 11-15.

Bandelt HJ, Forster P, Sykes BC & Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141: 743-753.

Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G & Franco B (1999) Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics 59: 51-58.

Barbiroli B, Montagna P, Cortelli P, Martinelli P, Sacquegna T, Zaniol P & Lugaresi E (1990) Complicated migraine studied by phosphorus magnetic resonance spectroscopy. Cephalgia 10: 236-272.

Barbiroli B, Montagna P, Cortelli P, Funicello R, Iotti S, Moniri L, Pierangeli G, Zaniol P & Lugaresi E (1992) Abnormal brain and muscle energy metabolism shown by 31 P magnetic resonance spectroscopy in patients affected by migraine with aura. Neurology 42: 1209-1214.

Barbiroli B, Montagna P, Martinelli P, Lodi R, Iotti S, Cortelli P, Funicello R & Zaniol P (1994) Defective brain energy metabolism shown by in vivo 31P MR spectroscopy in 28 patients with mitochondrial cytopathies. J Cereb Blood Flow Metab 13: 469-474.

Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH, Kohlschutter A, Mayer G, Rahlf G, Servidei S, et al (1987) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74: 248-258.

Barkovich AJ, Good WV, Koch TK & Berg BO (1993) Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 14: 1119-1137.

Barrientos A, Volpini V, Casadeemont J, Genis D, Manzanares JM, Ferrer I, Corral J, Cardellach F, Urbano-Marquez A, Estivill X & Nunes V (1996) A nuclear gene defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 97: 1570-1576.

Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA & Lightowlers RN (1997) Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am J Hum Genet 60: 1430-1438.

Bille B (1997) A 40-year follow-up of school children with migraine. Cephalgia 17: 488-491.

Bindoff LA, Howell N, Weber K & Poulton J (1992) Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA: a potential disease mechanism. 2nd Int Cong Human Mitochondrial Pathology (EURMIT), 6. (abstr).

Bogenhagen DF (1999) Repair of mtDNA in vertebrates. Am J Hum Genet 64: 1276-1281.

Bogousslavsky J, van Melle G & Regli F (1988) The Lausanne Stroke Registry: analysis of 1000 consecutive patients with first stroke. Stroke 19: 1083-1092.

Bogousslavsky J & Regli F (1987) Ischemic stroke in adults younger than 30 years of age. Arch Neurol 44: 479-482.

Bogousslavsky J, Regli F, Maeder P, Meuli R & Nader J (1993) The etiology of posterior circulation infarcts: a prospective study using magnetic reconance imaging and magnetic resonance angiography. Neurology 43: 1528-1533.

Bonilla E, Tanji K, Hirano M, Vu TH, DiMauro S & Schon EA (1999) Mitochondrial involvement in Alzheimer’s disease. Biochim Biophys Acta 1410: 171-182.

Boulet L, Karpati G & Shoubridge EA (1992) Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51: 1187-1200.

Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequinot E, Munnich A & Rötig A (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 11: 144-149.

Bresolin N, Martinelli P, Barbiroli B, Zaniol P, Ausenda C, Montagna P, Gallanti A, Comi GP, Scarlato G & Lugaresi E (1991) Muscle mitochondrial DNA deletion and 31P-NMR spectroscopy alterationsin a migraine patient. J Neurol Sci 104: 182-189.

Brown MD, Sun F & Wallace DC (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60: 381-387.

Brown MD, Torroni A, Reckord CL & Wallace DC (1995) Phylogenetic analysis of Leber’s hereditary optic neuropathy mitochondrial DNA’s indicates multiple independent occurrences of the common mutations. Hum Mutat 6: 311-325.

Brown MD, Voljavec AS, Lott MT, MacDonald I &Wallace DC (1992) Mitochondrial DNA complex I and III mutations associated with Leber’s hereditary optic neuropathy. FASEB J 6: 2791-2799.

Brown MD & Wallace DC (1994) Molecular basis of mitochondrial DNA disease. J Bioenergetics and Biomembranes 26; 3: 273-289.

Buring JE, Herbert P, Romero J, Kittross A, Cook N, Manson J, Peto R & Hennekens C (1995) Migraine and subsequent risk of stroke in the Physicians’ Health Study. Arch Neurol 52: 129-134.

Carolei A, Marini C, Ferranti E, Frontoni M, Prencipe M, Fieschi C & the National Research Council Study Group (1993) A prospective study of cerebral ischemia in the young. Analysis of pathogenic determinants. Stroke 24: 362-367.

Carolei A, Marini C, De Matteis G & The Italian National Research Council Study Group on Stroke in the young (1996) History of migraine and risk of cerebral ishaemia in young adults. Lancet 347: 1503-1506.

Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B & Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded metalloprotease. Cell 93: 973-983.

Castillo M, Kwock L & Green C (1995) MELAS syndrome: imaging and proton MR spectroscopic findings. AJNR Am J Neuroradiol 16: 233-239.

Cavalli-Sforza LL, Menozzi P & Piazza A (1993) Demic expansions and human evolution. Science 259: 639-646.

Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS & Wallace DC (1995a) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 57: 133-149.

Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G & Schon EA (1995b) Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 57: 239-247.

Chinnery PF, Howell N, Andrews RM & Turnbull DM (1999) Mitochondrial DNA analysis: polymorphisms and pathogenicity. J Med Genet 36: 505-510.

Chinnery PF, Howell N, Lightowlers RN & Turnbull DM (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120: 1713-1721.

Chomyn A (1998) The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet 62: 745-751.

Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, Lai ST, Nonaka I, Angelini C & Attardi G (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downatream mature transcripts. Proc Natl Acad Sci USA 89: 4221-4225.

Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, De Vivo DC, Rowland LP, Schon EA & DiMauro S (1992) MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 31: 391-398.

Clark JM, Marks MP, Adalsteinsson E, Spielman DM, Shuster D, Horoupian D & Albers GW (1996) MELAS: clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. Neurology 46: 223-227.

Clayton DA (1982) Replication of animal mitochondrial DNA. Cell 28: 693-705.

Clayton DA (1984) Transcription of the maintain mitochondrial genome. Annu Rev Biochem 53: 573-594.

Comas D, Calafell F, Mateu E, Perez-Lezaum A, Bosch E & Bertranpetit (1997) Mitochondrial DNA variation and the origin of the Europeans. Hum Genet 99: 443-449.

Couch JR, Bearss C & Verhulst S (1986) Importance of maternal hereditary in the etiology of migraine (abstract). Neurology 36(suppl): 99.

Daga A, Micol V, Hess D, Aebersold R & Attardi G (1993) Molecular characterization of the transcription termination factor from human mitochondria. J Biol Chem 268: 8123-8130.

Dahl HHM (1998) Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet 63: 1594-1597.

Danan C, Sternberg D, Van Steirteghem A, Cazeneuve C, Duquesnoy P, Besmond C, Goossens M, Lissens W & Amselem S (1999) Evaluation of paternal mitochondrial inheritance in neonates born after intracytoplasmic sperm injection. Am J Hum Genet 65: 463-473.

de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30: 857-865.

de Vries DD, van Engelen BG, Gabreels FJ, Ruitenbeek W & van Oost BA (1993) A second missence mutation in the mitochondrial ATPase 6 gene in Leigh syndrome. Ann Neurol 34: 410-412.

de Vries D, de Wijs I, Ruitenbeek W, Begeer J, Smit P, Bentlage H & van Oost B (1994) Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J Neurol Sci 124: 77-82.

DiMauro S (1999) Mitochondrial encephalomyopathies: back to Mendelian genetics. Ann Neurol 45: 693-694.

DiMauro S & Bonilla E (1997) Mitochondrial encephalomyopathies. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds) The Molecular and Genetic Basis of Neurological Disease. Butterworth-Heinemann, Boston, pp 201-235.

Dunbar DR, Moonie PA, Zeviani M & Holt IJ (1996) Complex I deficiency is associated with 3243G: C mitochondrial DNA in asteosarcoma cell cybrids. Hum Mol Genet 5: 123-129.

Excoffier L & Smouse PE (1994) Using allele frequencies and geographic subdivision to reconstruct gene trees within a species: molecular variance parcimony. Genetics 136: 343-359.

Ferrari MD (1998) Migraine. Lancet 351: 1043-1051.

Gardner-Medwin D, Dale G & Parkin JM (1975) Lactic acidosis with mitochondrial myopathy and recurrent coma (abstract). First international congress of child neurology 47.

Glotz C, Zwieb C, Brimacombe R, Edwards K & Kossel H (1981) Secondary structure of the large subunit ribosomal RNA from Escherichia coli, Zea mays chloroplast, and human and mouse mitochondrial ribosomes. Nucleic Acids Res 9: 3287-3306.

Goto Y (1995) Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 3: 107-112.

Goto Y, Horai S, Matsuoka T, Koga Y, Nihei K, Kobayashi M & Nonaka I (1992) Mitohcondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 42: 545-550.

Goto Y, Nonaka I & Horai S (1990) A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653.

Goto Y, Nonaka I & Horai S (1991) A new mtDNA mutation associated with mitochondrial myopathy, ancephalopathy, lactic acidosis and strokelike episodes (MELAS). Biochim Biophys Acta 1097: 238-240.

Goto Y-i, Tsugane K, Tanabe Y, Nonaka I & Horai S (1994) A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 202: 1624-1630.

Graven L, Passarino G, Semino O, Boursot P, Santachiara-Benerecetti S, Langaney A & Excoffier L (1995) Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol 12: 334-345.

Green DR & Reed JC (1998) Mitochondria and apoptosis. Science 281: 1309-1312.

Gropen TI, Prohovnic I, Tatemichi TK & Hirano M (1994) Cerebral hyperemia in MELAS. Stroke 25: 1873-1876.

Haan J, Terwindt GM & Ferrari M (1996) Genetics of migraine. In: Mathew NT (ed) Neurologic clinics (advances in headache). Saunders, Philadelphia.

Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA & Harding AE (1993) The mitochondrial DNA transfer RNA Lys A-G (8344) and the syndrome of myoclonic epilepsy with ragged red fibers (MERRF). Brain 116: 617-632.

Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA & Harding AE (1991) Mitochondrial encephalomyopathies: molecular genetic diagnosis from blood samples. Lancet 337: 1311-1313.

Hart ZH, Chang CH, Perrin EV, Neerunjun JS & Ayyar R (1977) Familial poliodystrophy, mitochondrial myopathy, and lactic acidemia. Arch Neurol 34: 180-185.

Hasegawa H, Matsuoka T, Goto Y and Nonaka I (1991) Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalomyopathy, lactic acidosis and stroke-like episodes. Ann Neurol 29: 601-605.

Hayashi JI, Ohta S, Kikuchi A, Takemitsu M, Goto Y and Nonaka I (1991) Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 88: 10614-10618.

Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgial and facial pain. Cephalgia 8(suppl7): 1-96.

Hess JF, Parisi MA, Bennett JL & Clayton DA (1991) Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 351: 236-239.

Heyer E (1995) Mitochondrial and nuclear genetic contribution of female founders to a contemporary population in Northeast Quebec. Am J Hum Genet 56: 1450-1455.

Hirano M & Pavlakis SG (1994) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): current concepts. J Child Neurol 9: 4-13.

Hirano M, Ricci E, Koenigsberger MR, Defindini R, Pavlakis SG, De Vivo DC, DiMauro S & Rowland LP (1992) MELAS: An original case and clinical criteria for diagnosis. Neuromuscular Disord 2: 125-135.

Hirano M, Shtilbans A, Mayeux R, Davidson MM, DiMauro S, Knowles JA & Schon EA (1997) Apparent mtDNA heteroplasmy in Alzheimer’s disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA psudogenes. Proc Natl Acad Sci USA 94: 14894-14899.

Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A & Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6: 1835-1846.

Holt IJ, Harding AE & Morgan-Hughes JA (1989) Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms. Nucl Acid Res 17: 4465-4469.

Holt IJ, Harding AE, Petty RHK & Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46: 428-433.

Houstek J, Klement P, Hermanska J, Houstokova H, Hanikova H, Van den Bogert C & Zeman J (1995) Altered properties of mitochondrial ATP-synthase in patients with a T>G mutation in the ATPase (subunit 6) gene at position 8993. Biochim Biophys Acta 1271: 349-357.

Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA & Mackey D (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 140: 285-302.

Howell N, Kubacka I & Mackey DA (1996) How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 59: 501-509.

Howell N, Kubacka I, Xu M & McCullough DA (1991) Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48: 935-942.

Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E & Savontaus ML (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. Hum Genet 92: 379-384.

Huoponen K, Vilkki J, Aula P, Nikoskelainen EK & Savontaus ML (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48: 1147-1153.

Hutchin T & Cortopassi G (1995) A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci USA 92: 6892-6895.

Ino H, Tanaka M, Ohno K, Hattori K, Ikebe S, Sano T, Ozawa T, Ichiki T, Kobayashi M & Wada Y (1991) Mitochondrial leucine tRNA mutation in a mitochodrial encephalomyopathy. Lancet 337: 234-235.

Inui K, Fukushima H, Tsukamoto H, Taniike M, Midorikawa M, Tanaka J, Nishigaki T & Okada S (1992) Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene. J Pediatr 120: 62-66.

Izagirre N & de la Rua C (1999) An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major Paleolithic expancion from southwestern Europe. Am J Hum Genet 65: 199-207.

James AM, Wei YH, Pang CY & Murphy MP (1996) Altered mitochondrial function in fibroblasts containing MELAS and MERRF mitochondrial mutations. Biochem J 318: 401-407.

Jenuth JP, Peterson AC, Fu K & Shoubridge EA (1996) Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14: 146-151.

Johns DR, Neufeld MJ & Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187: 1551-1557.

Johnson CJ, Kittner SJ, McCarter RJ, Sloan MA, Stern BJ, Buchholz D & Price TR (1995) Interrater reliability of an etiologic classification of ischemic stroke. Stroke 26: 46-51.

Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T & Kremensky I (1997) SSCP analysis: a blind sensitivity trial. Hum Mutat 10: 65-70.

Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T & Rogers AR (1995) Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. Am J Hum Genet 57: 523-538.

Jun AS, Brown MD & Wallace DC (1994) A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 91: 6206-6210.

Kameoka K, Isotani H, Tanaka K, Azukari K, Fujimura Y, Shiota Y, Sasaki E, Majima M, Furukawa K, Haginomori S, Kitaoka H & Ohsawa N (1998a) Novel mitochondrial DNA mutation in tRNAy (8296A>G) associated with diabetes. Biochem Biophys Res Commun 245: 523-527.

Kameoka K, Isotani H, Tanaka K, Kitaoka H & Ohsawa N (1998b) Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNAy. Diabetes Care 21: 2034-2035.

Kappelle LJ, Adams HP Jr, Heffner ML, Torner JC, Gomez F & Biller J (1994) Prognosis of young adults with ischemic stroke. A long-term follow-up study assessing recurrent vascular events and functional outcome in the Iowa Registry of Stroke in Young Adults. Stroke 25: 1360-1365.

Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L & Zeviani M (1996) An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 58: 763-769.

Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L & Suomalainen A (1999) A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet 65: 256-261.

King MP, Koga Y, Davidson M & Schon EA (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 12: 480-490.

Klopstock T, May A, Seibel P, Papagiannuli E, Diener HC & Reichmann H (1996) Mitochondrial DNA in migraine with aura. Neurology 46: 1735-1738.

Kobayashi Y, Miyabayashi S, Takada G, Narisawa K, Tada K & Yamamoto TY (1982) Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis. Eur J Pediatr 139: 25-30.

Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, Yanagisawa M, Kagawa Y & Ohta S (1990) A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173: 816-822.

Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y & Ohta S (1991) Respiration-deficient cells are caused by a single point mutation in the mitocondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am J Hum Genet 49: 590-599.

Koenigsberger MR, Pellock JM, DiMauro SS & Eastwood AB (1976) Juvenile mitochondrial myopathy, short stature and lactic acidosis: a clinical, biochemical and ultrastructural study (abstract). Fifth National Meeting of the Child Neurology Society, Monterey, CA.

Koga Y, Davidson M, Schon EA & King MP (1995) Analysis of cybrids harbouring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene. Muscle Nerve 3: 119-123.

Kogelnik AM, Lott MT, Brown MD, Navathe SB & Wallace DC (1998) MITOMAP: a human mitochondrial genome database - 1998 update. Nucleic Acids Res 26: 112-115.

Korhonen M (1991) Uralin täällä ja tuolla puolen. In: Uralilaiset kansat. Laakso J (ed) WSOY, Helsinki, pp 20-48.

Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O & Koenig M (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 16: 345-351.

Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ & Ala-Kokko L (1998) Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoersis and nucleotide sequencing. Proc Natl Acad Sci USA 95: 1681-1685.

Lahermo P, Sajantila A, Sistonen P, Lukka M, Aula P, Peltonen L & Savontaus ML (1996) The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet 58: 1309-1322.

Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E & Savontaus ML (1997) mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy. Eur J Hum Genet 5: 271-279.

Lertrit P, Kapsa RM, Jean-Francois MJ, Thyagarajan D, Noer AS, Marzuki S & Byrne E (1994) Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction. Hum Mol Genet 3: 1973-1981.

Lertrit P, Noer AS, Jean-Francois MJB, Kapsa R, Dennet X, Thyagarajan D, Lethlean K, Byrne E & Marzuki S (1992) A new disease-related mutation of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome affects the ND4 subunit respiratory complex I. Am J Hum Genet 51: 457-468.

Lightowlers RN, Chinnery PF, Turnbull DM & Howell N (1997) Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. TIG 13: 450-455.

Lipton RB & Stewart WF (1997) Epidemiology and comorbidity of migraine. In: Goadsby PJ, Silberstein SD (eds) Headache. Butterworth-Heinemann, Boston, pp 75-97.

Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R & van den Heuvel L (1998) The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63: 1598-1608.

Lutsenko S & Cooper MJ (1998) Localization of the Wilson’s disease protein product to mitochondria. Proc Natl Acad Sci USA 95: 6004-6009.

Lynch M (1996) Mutation accumulation in transfer RNAs: molecular evidence for Muller’s ratchet in mitochondrial genomes. Mol Biol Evol 13: 209-220.

Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonne-Tamir B, Sykes B & Torroni A (1999) The emergencing tree of west Eurasian mtDNAs: a synthesis of control region sequences and RFLPs. Am J Hum Genet 64: 232-249.

Mackey D & Howell N (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 51: 1218-1228.

Majamaa K, Moilanen JS, Uimonen S, Remes AM, Salmela PI, Kärppä M, Majamaa-Voltti KAM, Rusanen H, Sorri M, Peuhkurinen KJ & Hassinen IE (1998) Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 63: 447-454.

Majamaa K, Turkka J, Kärppä M, Winqvist S & Hassinen IE (1997) The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology 49: 1331-1334.

Manfredi G, Thyagarajan D, Papadopoulou LC, Pallotti F & Schon EA (1997) The fate of human sperm-derived mtDNA in somatic cells. Am J Hum Genet 61: 953-960.

Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, Parent M, Grunfeld JP, Largilliere C, Lombes A & Bonnefont JP (1995) Point mutation of the mitochondrial tRNA(Leu) gene (A3243G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J Med Genet 32: 654-656.

Marchington DR, Macaulay V, Hartshorne GM, Barlow D & Poulton J (1998) Evidence from human oocytes for a genetic bottleneck in an mtDNA disease. Am J Hum Genet 63: 769-775.

Marie SKN, Goto Y, Passos-Bueno MR, Zatz M, Carvalho AAS, Carvalho M, Levy JA, Palou VB, Camboitto S, Horai S & Nonaka I (1994) A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol 52: 136-139.

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S & Zeviani M (1995) Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation in mitochondrial DNA. J Neurol 242: 304-312.

Mazziotta MR, Ricci E, Bertini E, Vici CD, Servidei S, Burlina AB, Sabetta G, Bartuli A, Manfredi G, Silvestri G, Moraes CT & DiMauro S (1992) Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 121: 896-901.

McKelvie P, Byrne E & Marzuki S (1991) Mitochondrial myoencephalopathies, molecular and neuropathological correlations. J Neurol Sci 102: 51-60.

McShane MA, Hammans SR, Sweeney MG, Holt IJ, Beattie TJ, Brett EM & Harding AE (1991) Pearson syndrome and mitohcondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet 48: 39-42.

Merante F, Myint T, Tein L, Benson L & Robinson BH (1996) An additional mitochondrial tRNAIle point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mut 8: 216-222.

Miyabayashi S, Hanamizu H, Nakamura R, Endo H & Tada K (1992) Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts. J Inherit Metab Dis 15: 797-802.

Miyamoto A, Oki J, Takahashi S, Itoh J, Kusunoki Y & Cho K (1997) Serial imaging in MELAS. Neuroradiology 39: 427-430.

Montagna P, Cortelli P & Barbiroli B (1994) Magnetic resonance spectroscopy studies in migraine. Cephalgia 14: 184-193.

Montagna P, Sacquegna T, Cortelli P & Lugaresi E (1989) Migraine as a defect of brain oxidative metabolism: a hypothesis. J Neurol 236: 124-125.

Montoya J, Ojala D & Attardi G (1981) Distinctive features of the 5’-terminal sequences of the human mitochondrial mRNAs. Nature 290: 465-470.

Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA & DiMauro S (1993a) A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet 4: 492-501.

Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA & DiMauro S (1993b) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot? J Clin Invest 92: 2906-2915.

Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S, Nonaka I, Koga Y, Spiro AJ, Bromwell KW, Schmidt B, Schotland DL, Zupanc M, DeVivo DC, Scon EA & Rowland LP (1989) Mitochondrial DNA deletions in progressive external ophtalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320: 1293-1299.

Moraes CT, Ricci E, Bonilla E, DiMauro S & Schon EA (1992) The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 50: 934-949.

Morgan-Hughes JA, Sweeney MG, Cooper JM, Hammans SR, Brockington M, Schapira AHV, Harding AE & Clark JB (1995) Mitochondrial DNA (mtDNA) diseases: correlation of genotype and phenotype. Biochim Biophys Acta 127: 135-140.

Morten K, Brown G, Lake B, Wilson J & Poulton J (1992) A new point mutation associated with the MELAS phenotype. 2nd Int Cong Human Mitochondrial Pathology (EURMIT), 39. (abstr).

Mortimer MJ, Kay J, Jaron A & Good PA (1992) Does a history of maternal migraine or depression predispose children to headache and stomach ache? Headache 32: 353-355.

Moudy AM, Handran SD, Goldberg MP, Ruffin N, Karl I, Kranz-Eble P, DeVivo DC & Rothman SM (1995) Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. Proc Natl Acad Sci USA 92: 729-733.

Muller-Höcker J, Hubner G, Bise K, Forster C, Hauck S, Paetzke I, Pongratz D & Kadenbach B (1993) Generalized mitochondrial angiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency. Arch Pathol Lab Med 117: 202-210.

Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R & Kimura J (1995) A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS ovarlap syndrome. Biochem Biophys Res Commun 214: 86-93.

Neckelmann N, Li K, Wade RP, Shuster R & Wallace DC (1987) cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci USA 84: 7580-7584.

Nencini P, Inzitari D, Baruffi MC, Fratiglioni L, Gagliardi R, Benvenuti L, Buccheri AM, Cecchi L, Passigli A, Rosselli A & Amaducci L (1988) Incidence of stroke in young adults in Florence, Italy. Stroke 19: 977-981.

Nishino I, Spinazzola A & Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692.

Norio R, Nevanlinna HR & Perheentupa J (1973) Hereditary diseases in Finland; rare flora in rare soul. Annals of Clinical Research 5: 109-141.

Obayashi T, Hattori K, Sugiyama S, Tanaka M,Tanaka T, Itoyama S, Deguchi H, Kawamura K, Koga Y, Toshima H, Takeda N, Nagano M, Ito T & Ozawa T (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 124: 1263-1269.

Ohama E & Ikuta F (1987) Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS). Acta Neuropthol 75: 1-7.

Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M & Miyatake T (1987) Mitochondrial angiopathy in cerebral vessels of mitochondrial encephalomyopathy. Acta Neuropathol (Berl) 74: 226-233.

Ohlenbusch A, Wilichowski E & Hanefeld F (1998) Characterization of the mitochondrial genome in childhood multiple sclerosis l. optic neuritis and LHON mutations. Neuropediatrics 29: 175-179.

Ooiwa Y, Uematsu Y, Terada T, Nakai K, Itakura T, Komai N & Moriwaki H (1993) Cerebral blood flow in mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes. Stroke 24: 304-309.

Ozawa T (1995) Mechanism of somatic mitochondrial DNA mutations associated with age and diseases. Biochim Biophys Acta 1271: 177-189.

Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K, Nakane Y & Hashiba K (1991) Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson’s disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 177: 518-525.

Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M & Santachiara-Benerecetti AS (1998) Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 62: 420-434.

Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC & Rowland LP (1984) Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16: 481-488.

Peltonen L, Pekkarinen P & Aaltonen J (1995) Messages from an isolate: Lessons from the Finnish gene pool. Biol Chem Hoppe-Seyler 376: 697-704.

Pena SD, Barreto G, Vago AR, De Marco L, Reinach FC, Dias Neto E & Simpson AJ (1994) Sequence-specific ”gene signatures” can be obtained by PCR with single specific primers at low stringency. Proc Natl Acad Sci USA 91: 1946-1949.

Pessin MS, Lathi ES, Cohen MB, Kwan ES, Hedges TR & Caplan LR (1987) Clinical features and mechanism of occipital infarction. Ann Neurol 21: 290-299.

Petit PX, Susin SA, Zamzami N, Mignotte B & Kroemer G (1996) Mitochondria and programmed cell death: back to the future. FEBS Lett 396: 7.

Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S & Schon EA (1994) Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 3: 449-454.

Piazza A (1993) Who are the Europeans? Science 260: 1767-1769.

Pitkänen K (1994) Suomen väestön historialliset kehityslinjat. In: Koskinen S, Martelin T, Notkola IL, Notkola V, Pitkänen K (eds) Suomen väestö. Gaudeamus, Hämeenlinna, pp 19-63.

Pitkänen S & Robinson BH (1996) Mitochondrial Complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. J Clin Invest 98: 345-351.

Poulton J, Deadman ME & Gardiner RM (1989) Duplications in mitochondrial DNA in mitochondrial myopathy. Lancet 1(8632): 236-240.

Poulton J, Deadman ME, Ramacharan S & Gardiner RM (1991) Germ-line deletions of mtDNA in mitochondrial myopathy. Am J Hum Genet 48: 649-653.

Poulton J, Macaulay V & Marchington DR (1998) Is the bottleneck cracked? Am J Hum Genet 62: 752-757.

Prezant TR, Agapian JV, Bohlman CM, Bu X, Oxtas S, Qiu W, Amos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M & Fischel-Ghodsian N (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4: 289-293.

Pult I, Sajantila A, Simanainen J, Georgiev O, Schaffer W & Pääbo S (1994) Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biol Chem Hoppe-Seyler 375: 837-840.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J & Thorburn DR (1996) Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 39: 343-351.

Reardon W, Ross RJ, Sweeney MG, Luxon LM, Harding AE & Trembath RC (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340: 1376-1379.

Richards MB, Macaulay VA, Bandelt HJ & Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62: 241-260.

Richter C (1988) Do mitochondrial DNA fragments promote cancer and aging? FEBS Lett 241: 1-5.

Rowland LP, Blake DM, Hirano M, DiMauro S, Schon EA, Hays AP & DeVivo DC (1991) Clinical syndromes associated with ragged red fibers. Rev Neurol 147: 467-473.

Russell MB, Hilden J, Sorensen SA & Olesen J (1993) Familial occurence of migraine without aura and migraine with aura. Neurology 43: 1369-1373.

Russell MB & Olesen J (1995) Increased familial risk and evidence of genetic factor in migraine. Br Med J 311: 541-544.

Russell MB & Olesen J (1996) A nosographic analysis of the migraine aura in a general population. Brain 119: 355-361.

Russell MB, Rasmussen BK, Thornvaldesen P & Olesen J (1995) Prevalence and sex ratio of the subtypes of migraine. Int J Epidemiol 24: 612-618.

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P & Munnich A (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50: 364-370.

Rötig A, Cormier V, Blache S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM & Munnich A (1990) Pearson marrow-pancreas syndrome. A multisystem mitochondrial disorder of infancy. J Clin Invest 86: 1601-1608.

Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A & Rustin P (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17: 215-217.

Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus ML, Aula P, Beckman L, Tranebjaerg L, Gedde-Dahl T, Issel-Tarver L, DiRienzo A & Pääbo S (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 5: 42-52.

Sajantila A & Pääbo S (1995) Language replacement in Scandinavia. Nat Genet 11: 359-360.

Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C & Pääbo S (1996) Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc Natl Acad Sci USA 93: 12035-12039.

Sakuta R, Goto Y, Horai S & Nonaka I (1993) Mitochondrial DNA mutations at nucleotide positions 3242 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study. Neurol Sci 115: 158-160.

Sakuta R & Nonaka I (1989) Vascular involvement in mitochondrial myopathy. Ann Neurol 25: 594-601.

Sangiorgi S, Mochi M, Riva R, Cortelli P, Monari L, Pierangeli G & Montagna P (1994) Abnormal platelet mitochondrial function in patients affected by migraine with and without aura. Cephalgia 14: 21-23.

Santorelli FM, Shanske S, Macaya A, De Vivo DC & DiMauro S (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh’s syndrome. Ann Neurol 34: 827-834.

Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O & Wachi E (1994) A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Mol Biol Int 33: 1055-1061.

Schapira AHV (1999a) Mitochondrial involvement in Parkinson’s disease, Huntington’s disease, hereditary spastic paraplegia and Friedreich’s ataxia. Biochim Biophys Acta 1410: 159-170.

Schapira AHV (1999b) Mitochondrial diseases. Biochim Biophys Acta 1410: 99-102.

Schon EA, Bonilla E & DiMauro S (1997) Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 29: 131-149.

Seibel P, Grunewald T, Gundolla A, Diener HC & Reichmann H (1996) Investigation on the mitochondrial transfer RNALeu(UUR) in blood cells from patients with cluster headache. J Neurol 243: 305-307.

Servidei S (1997) Mitochondrial encephalomyopathies: Gene mutation. Neuromuscul Disord 7: XII-XVII.

Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D & Lippe BM (1975) Familial poliodystrophy, mitochondrial myopathy and lactic acidemia. Neurology 25: 614-621.

Shay JW & Werbin H (1992) New evidence for the insertion of mitochondrial DNA into the human genome: significance for cancer and aging. Mutat Res 275: 227-235.

Shishido F, Uemura K, Inugami A, Tomura N, Higano S, Fujita H, Sasaki H, Kanno I, Murakami M, Watahiki Y & Nagata K (1996) Cerebral oxygen and glucose metabolism and blood flow in mitochondrial encephalomyopathy: a PET study. Neuroradiology 38: 102-107.

Shoffner JM, Bialer MG, Pavlakis SG, Lott MT, Kaufman A, Dixon J, Teichberg S & Wallace DC (1995a) Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene. Neurology 45: 286-292.

Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR, Smith E, Dixon J & Wallace DC (1995b) Leber’s hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation in a complex I subunit. Ann Neurol 38: 163-169.

Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, Watts RL, Juncos JL, Hansen LA, Crain BJ, Fayad M, Reckord CL & Wallace DC (1993) Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17: 171-184.

Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW & Wallace DC (1990) Myoclonic epilepsy and ragged-red fibers disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 61: 931-937.

Shoffner JM & Wallace DC (1995) Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1535-1609.

Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M & DiMauro S (1993) Clinical features associated with the A>G transition at nucleotide 8344 of mtDNA (‘MERRF mutation’). Neurology 43: 1200-1206.

Silvestri G, Moraes CT, shanske S, Oh SJ & DiMauro S (1992) A new mtDNA mutation in the ­tRNAilil gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 51: 1213-1217.

Simonetti S, Chen X, DiMauro S & Schon EA (1992) Accumulation of deletions in human ­mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim Biophys Acta 1180: 113-122.

Skoglund R (1979) Reversible ataxia, mitochondrial myopathy and lactic acidemia. Neurology 29: 717-720.

Sprinzl M, Hartmann T, Weber J, Blank J & Zeidler R (1989) Compilation of tRNA sequences and sequences of tRNA genes. Nucleic Acids Res 17(suppl): 1-172.

Stewart WF, Schechter A & Rasmussen BK (1994) Migraine prevalence: a review of population-based studies. Neurology 44(suppl4): 17-23.

St John J, Sakkas D, Dimitriadi K, Barnes A, Maclin V, Ramey J, Barrat C & De Jonge C (2000) Failure of elimination of paternal mitochondrial DNA in abnormal embryos. Lancet 355: 200.

Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H & Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9: 146-151.

Sweeney MG, Bundy S, Brockington M, Poulton KR, Weiner JB & Harding AE (1993) Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA transfer RNA[Leu(UUR)]; gene. Q J Med 86: 709-713.

Taanman JW (1999) The mitochondrial genome: structure, transcription, translation and replication. Biochim Biophys Acta 1410: 103-123.

Takahashi S, Tohgi H, Yonezawa H, Obara S & Nagane Y (1998) Cerebral blood flow and oxygen metabolism before and after a stroke-like episode in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). J Neurol Sci 158: 58-64.

Tarnopolsky MA, Maguire J, Myint T, Applegrath D & Robinson BH (1998) Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation. Muscle Nerve 21: 25-33.

Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JTR, Wherred J, Smith C, Rudd N, Petrova-Benedict P & Robinson BH (1992) Heteroplasmic mtDNA mutation (T>G) at 8993 can causeLeigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 50: 852-858.

Terwindt GM, Ophoff RA, Haan J, Frants RR, Ferrari MD for the Dutch Migraine Genetics Research Group (1998) Migraine, ataxia, and epilepsy: a challenging spectrum of genetic determined calcium channelopathies. Eur J Hum Genet 6: 297-307.

Thomas AW, Edwards A, Sherratt EJ, Majid A, Gagg J & Alcolado JC (1996) Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus. J Med Genet 33: 253-255.

Thomas AW, Morgan R, Sweeney M, Rees A & Alcolado J (1994) The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis. Hum Genet 94: 621-623.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T & Zeviani M (1998) Mutations on SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63: 1609-1621.

Togunaga M, Mita S, Sakuta R, Nonaka I & Araki S (1993) Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Ann Neurol 33: 275-280.

Torroni A, Bandelt HJ, D’Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus ML, Bonne-Tamir B & Scozzari R (1998) mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62: 1137-1152.

Torroni A, Carelli V, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC & Scozzari R (1996b) Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy. Am J Hum Genet 59: 248-252.

Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML & Wallace DC (1996a) Classification of European mtDNAs from an analysis of three European populations. Genetics 144: 1835-1850.

Torroni A, Lott MT, Cabell MF, Chen Y, Laverge L & Wallace DC (1994) mtDNA and the origin of Caucasians. Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55: 760-776.

Torroni A, Petrozzi M, D’Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A & Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of the Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60: 1107-1121.

Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM & Wallace DC (1993a) Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53: 563-590.

Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB, Cabell MF, Crawford MH, Comuzzie AG & Wallace DC (1993b) mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53: 591-608.

Torroni A & Wallace DC (1994) Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr 26: 261-271.

Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM & Smeitink JA (1999) Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol 45: 787-790.

Trounce I, Byrne E & Marzuki S (1989) Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing. Lancet 1(8639): 637-639.

Tsuzuki T, Nomiyama H, Setoyama C, Maeda S & Shimada K (1983) Presence of mitochondrial-DNA-like sequences in the human nuclear DNA. Gene 25: 223-229.

Wallace DC (1982) Structure and evolution of organelle genomes. Microbiol Rev 46: 208-240.

Wallace DC (1993) Mitochondrial diseases: genotype versus phenotype. TIG 9: 128-133.

Wallace DC (1994) Mitochondrial DNA mutations in diseases of energy metabolism. J Bioenerg Biomembr 26: 241-250.

Wallace DC (1995) Mitochondrial DNA variation in human evolution and disease. Proc Natl Acad Sci USA 91: 8739-8746.

Wallace DC (1997) Mitochondrial DNA mutations and bioenegetic defects in aging and degenerative diseases. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL (eds) The Molecular and Genetic Basis of Neurological Disease. Butterworth-Heinemann, Boston, pp 237-269.

Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283: 1482-1487.

Wallace DC, Brown MD & Lott MT (1997a) Mitochondrial genetics. In: Rimoin DL, Connor JM, Pyeritz RE, Emery AEH (eds) Emory and Rimoin’s Principles and practice of medical genetics. Churchill Livingstone, London, pp 277-332.

Wallace DC & Melov S (1998) Radicals r’aging. Nat Genet 19: 105-106.

Wallace DC, Shoffner JM, Watts RL, Juncos JL & Torroni A (1992) Mitochondrial oxidative phosphorylation defects in Parkinson’s disease. Ann Neurol 32: 113-114.

Wallace DC, Singh G, Lott MT, Hodge JE, Schur TG, Lezza AMS, Elsas LJ & Nikoskelainen EK (1988a) Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242: 1427-1430.

Wallace DC, Stugard C, Murdock D, Schurr T & Brown MD (1997b) Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations. Proc Natl Acad Sci USA 95: 14900-14905.

Wallace DC, Zeng X, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM & Hopkins LC (1988b) Familial mitochondrial encephalomyopathies (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55: 601-610.

van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D & Smeitink J (1998) Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 62: 262-268.

van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ & Maassen JA (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1: 368-371.

Welch KMA, Levine SR, D’Andrea G, Schultz LR & Helpern JA (1989) Preliminary observations on brain energy metabolism in migraine studied by in vivo phosphorus 31 NMR spectroscopy. Neurology 39: 538-541.

Werle E, Schneider C, Renner M, Volker M & Fiehn W (1994) Convenient single-step, one tube purification of PCR products for direct sequencing. Nucleic Acid Res 22: 4354-4355.

Wilkinson-Herbots HM, Richards MB, Forster P & Sykes BC (1996) Site 73 in hypervariable region II of the human mitochondrial genome and the origin of European populations. Ann Hum Genet 60: 499-508.

Vilkki J, Savontaus ML & Nikoskelainen EK (1988) Human mitochondrial DNA types in Finland. Hum Genet 80: 317-321.

Vuoristo MM, Pihlajamaa T, Vandenberg P, Prockop DJ & Ala-Kokko L (1995) The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens. J Biol Chem 270: 22873-22881.

Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inh Metab Dis 19: 504-520.

Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V & DiMauro S (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR). Lancet 338: 143-147.

Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA & Rowland LP (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38: 1339-1346.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C & DiDonato S (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene. Eur J Hum Genet 1: 80-87.

Zeviani M, Tiranti V & Piantadosi C (1998) Reviews in molecular medicine. Mitochondrial disorders. Medicine 77: 59-72.

Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM & Shoubridge EA (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20: 337-343.

Zoratti M & Szabo I (1995) The mitochondrial permeability transition. Biochim Biophys Acta 1241: 139-176.

Zsurka G, Ormos J, Ivanyi B, Turi S, Endreffy E, Magyari M, Sonkodi S & Venetianer P (1997) Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis. Human Genet 99: 484-487.