{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:38:40Z","timestamp":1791898720149,"version":"4.3.4"},"reference-count":88,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2004,4]]},"DOI":"10.1016\/j.nmd.2003.12.004","type":"journal-article","created":{"date-parts":[[2004,2,27]],"date-time":"2004-02-27T05:22:03Z","timestamp":1077859323000},"page":"237-245","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":162,"title":["The diagnosis of mitochondrial muscle disease"],"prefix":"10.1016","volume":"14","author":[{"given":"Robert W.","family":"Taylor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew M.","family":"Schaefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin J.","family":"Barron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglass M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2003.12.004_BIB1","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/S1471-4892(01)00051-0","article-title":"The mitochondrial genome and mitochondrial muscle disorders","volume":"1","author":"Schaefer","year":"2001","journal-title":"Curr Opin Pharmacol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB2","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organisation of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2003.12.004_BIB3","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/S0168-9525(97)01266-3","article-title":"Mammalian mitochondrial genetics: heredity, heteroplasmy and disease","volume":"13","author":"Lightowlers","year":"1997","journal-title":"Trends Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB4","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.1392","article-title":"Mitochondrial DNA mutations in human disease","volume":"106","author":"DiMauro","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB5","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1093\/hmg\/10.20.2277","article-title":"Nuclear genetic defects of oxidative phosphorylation","volume":"10","author":"Shoubridge","year":"2001","journal-title":"Hum Mol Genet"},{"issue":"Suppl 1","key":"10.1016\/j.nmd.2003.12.004_BIB6","doi-asserted-by":"crossref","first-page":"SI17","DOI":"10.1016\/S0140-6736(99)90244-1","article-title":"Mitochondrial DNA and disease","volume":"354","author":"Chinnery","year":"1999","journal-title":"Lancet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S1474-4422(02)00159-X","article-title":"The neurology of mitochondrial DNA disease","volume":"1","author":"McFarland","year":"2002","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB8","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/BF01753355","article-title":"Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle","volume":"21","author":"Old","year":"1989","journal-title":"Histochem J"},{"key":"10.1016\/j.nmd.2003.12.004_BIB9","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1984","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB10","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1002\/1531-8249(199906)45:6<820::AID-ANA22>3.0.CO;2-W","article-title":"Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene","volume":"45","author":"Andreu","year":"1999","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB11","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1056\/NEJM199909303411404","article-title":"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA","volume":"341","author":"Andreu","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nmd.2003.12.004_BIB12","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1093\/hmg\/3.1.13","article-title":"Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy","volume":"3","author":"Sciacco","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB13","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/3804","article-title":"SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome","volume":"20","author":"Zhu","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB14","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1086\/302150","article-title":"Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency","volume":"63","author":"Tiranti","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB15","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1038\/ng819","article-title":"Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation","volume":"30","author":"McFarland","year":"2002","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB16","doi-asserted-by":"crossref","first-page":"1786","DOI":"10.1016\/S0735-1097(03)00300-0","article-title":"A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy","volume":"41","author":"Taylor","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB17","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1002\/ana.410390212","article-title":"Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia","volume":"39","author":"Taylor","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB18","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/ana.410400318","article-title":"MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA","volume":"40","author":"Taylor","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB19","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0960-8966(02)00216-X","article-title":"Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia","volume":"13","author":"Van Goethem","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2003.12.004_BIB20","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/ana.410430212","article-title":"Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle","volume":"43","author":"Brierley","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB21","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1093\/hmg\/10.1.17","article-title":"Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues","volume":"10","author":"Bodyak","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB22","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1111\/j.1365-2990.1980.tb00670.x","article-title":"Histochemical and ultrastructural analysis of the mitochondrial changes in a familial mitochondrial myopathy","volume":"6","author":"Tassin","year":"1980","journal-title":"Neuropathol Appl Neurobiol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB23","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1093\/brain\/awg028","article-title":"The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients","volume":"126","author":"Taivassalo","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2003.12.004_BIB24","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1258\/000456303321016114","article-title":"Some practical aspects of providing a diagnostic service for respiratory chain defects","volume":"40","author":"Janssen","year":"2003","journal-title":"Ann Clin Biochem"},{"key":"10.1016\/j.nmd.2003.12.004_BIB25","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1159\/000117269","article-title":"Respiratory chain encephalomyopathies: a diagnostic classification","volume":"36","author":"Walker","year":"1996","journal-title":"Eur Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB26","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1023\/A:1010347808082","article-title":"Diagnosis of mitochondrial disorders: clinical and biochemical approach","volume":"24","author":"Thorburn","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.nmd.2003.12.004_BIB27","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1212\/01.WNL.0000031795.91814.D8","article-title":"Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children","volume":"59","author":"Wolf","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.12.004_BIB28","series-title":"Organelle diseases","first-page":"341","article-title":"Laboratory analysis of mitochondrial disease","author":"Taylor","year":"1997"},{"key":"10.1016\/j.nmd.2003.12.004_BIB29","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0009-8981(94)90056-6","article-title":"Reference charts for respiratory chain activities in human tissues","volume":"228","author":"Chretien","year":"1994","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.nmd.2003.12.004_BIB30","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1023\/A:1006868810424","article-title":"Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex","volume":"174","author":"Trijbels","year":"1997","journal-title":"Mol Cell Biochem"},{"key":"10.1016\/j.nmd.2003.12.004_BIB31","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0022-510X(91)90088-O","article-title":"Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study","volume":"102","author":"Bindoff","year":"1991","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.nmd.2003.12.004_BIB32","first-page":"934","article-title":"The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle","volume":"50","author":"Moraes","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB33","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/0925-4439(93)90030-5","article-title":"Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain","volume":"1181","author":"Taylor","year":"1993","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.nmd.2003.12.004_BIB34","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1212\/WNL.56.7.849","article-title":"Familial cerebellar ataxia with muscle coenzyme Q10 deficiency","volume":"56","author":"Musumeci","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.12.004_BIB35","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1212\/01.WNL.0000055089.39373.FC","article-title":"Cerebellar ataxia and coenzyme Q10 deficiency","volume":"60","author":"Lamperti","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.12.004_BIB36","first-page":"1104","article-title":"Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy","volume":"67","author":"Valnot","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB37","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/15513","article-title":"Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene","volume":"23","author":"Papadopoulou","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB38","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1093\/hmg\/9.5.795","article-title":"Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency","volume":"9","author":"Jaksch","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB39","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/9.8.1245","article-title":"A mutation in the human heme A: farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency","volume":"9","author":"Valnot","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB40","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1086\/345489","article-title":"Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy","volume":"72","author":"Antonicka","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB41","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1073\/pnas.242716699","article-title":"Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics","volume":"100","author":"Mootha","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.nmd.2003.12.004_BIB42","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ajmg.1397","article-title":"Respiratory chain complex I deficiency","volume":"106","author":"Triepels","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB43","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/1531-8249(200007)48:1<102::AID-ANA15>3.0.CO;2-M","article-title":"Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families","volume":"48","author":"Kirby","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB44","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1136\/jmg.40.3.188","article-title":"The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency","volume":"40","author":"Chol","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB45","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/ana.10687","article-title":"Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh disease","volume":"54","author":"Kirby","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB46","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ana.10787","article-title":"de novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency","volume":"55","author":"McFarland","year":"2004","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB47","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","article-title":"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy","volume":"29","author":"Saada","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB48","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/ajmg.1379","article-title":"Diseases caused by nuclear genes affecting mtDNA stability","volume":"106","author":"Suomalainen","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB49","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1212\/01.WNL.0000056088.09408.3C","article-title":"Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)","volume":"60","author":"Agostino","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.12.004_BIB50","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/331717a0","article-title":"Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies","volume":"331","author":"Holt","year":"1988","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2003.12.004_BIB51","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1056\/NEJM198905183202001","article-title":"Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns\u2013Sayre syndrome","volume":"320","author":"Moraes","year":"1989","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nmd.2003.12.004_BIB52","first-page":"649","article-title":"Germ-line deletions of mtDNA in mitochondrial myopathy","volume":"48","author":"Poulton","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB53","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/S0022-3476(05)80962-X","article-title":"Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome","volume":"123","author":"Bernes","year":"1993","journal-title":"J Pediatr"},{"key":"10.1016\/j.nmd.2003.12.004_BIB54","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1086\/342482","article-title":"Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome","volume":"71","author":"Shanske","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB55","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1016\/0140-6736(91)92981-7","article-title":"Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples","volume":"337","author":"Hammans","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB56","first-page":"373","article-title":"A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle","volume":"60","author":"Weber","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB57","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0960-8966(02)00026-3","article-title":"A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy","volume":"12","author":"Taylor","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2003.12.004_BIB58","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1093\/hmg\/6.6.935","article-title":"Molecular mechanisms in mitochondrial DNA depletion syndrome","volume":"6","author":"Taanman","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB59","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/S0960-8966(03)00071-3","article-title":"A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia","volume":"13","author":"Deschauer","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2003.12.004_BIB60","series-title":"Aging methods and protocols","first-page":"245","article-title":"Analysis of mitochondrial DNA mutations: deletions","author":"Taylor","year":"2000"},{"key":"10.1016\/j.nmd.2003.12.004_BIB61","first-page":"222","article-title":"Rapid mapping of identified partial duplications of human mitochondrial DNA by long PCR","volume":"1308","author":"Fromenty","year":"1996","journal-title":"Biochem Biophys Acta"},{"key":"10.1016\/j.nmd.2003.12.004_BIB62","doi-asserted-by":"crossref","first-page":"4122","DOI":"10.1093\/nar\/23.20.4122","article-title":"Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle","volume":"23","author":"Melov","year":"1995","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2003.12.004_BIB63","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1093\/nar\/gnf067","article-title":"Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR","volume":"30","author":"He","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2003.12.004_BIB64","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/S0140-6736(97)05005-8","article-title":"Recurrent strokes in a 34-year-old man","volume":"350","author":"Chinnery","year":"1997","journal-title":"Lancet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB65","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1086\/316930","article-title":"Decrease of 3243 A>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study","volume":"68","author":"Rahman","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB66","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/0092-8674(90)90059-N","article-title":"Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation","volume":"61","author":"Shoffner","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2003.12.004_BIB67","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1212\/WNL.51.5.1447","article-title":"Expanding the phenotype of the 8344 transfer RNA lysine mitochondrial DNA mutation","volume":"51","author":"Austin","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.12.004_BIB68","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1002\/ana.410440616","article-title":"The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past","volume":"44","author":"Santorelli","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB69","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy","volume":"46","author":"Holt","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB70","first-page":"852","article-title":"Heteroplasmic mtDNA mutation (T\u2013G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high","volume":"50","author":"Tatuch","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB71","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1002\/ana.410380321","article-title":"A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis","volume":"38","author":"Thyagarajan","year":"1995","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB72","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1093\/hmg\/2.12.2081","article-title":"A new point mutation associated with mitochondrial encephalomyopathy","volume":"2","author":"Morten","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB73","doi-asserted-by":"crossref","first-page":"2906","DOI":"10.1172\/JCI116913","article-title":"Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?","volume":"92","author":"Moraes","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2003.12.004_BIB74","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/0925-4439(91)90042-8","article-title":"A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)","volume":"1097","author":"Goto","year":"1991","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.nmd.2003.12.004_BIB75","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1006\/bbrc.1994.2119","article-title":"A new point mutation at nucleotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)","volume":"202","author":"Goto","year":"1994","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.nmd.2003.12.004_BIB76","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1136\/jnnp.65.4.512","article-title":"MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity","volume":"65","author":"Hanna","year":"1998","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2003.12.004_BIB77","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/0960-8966(94)00079-O","article-title":"A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene","volume":"5","author":"Manfredi","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2003.12.004_BIB78","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1006\/bbrc.1997.7167","article-title":"Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS","volume":"238","author":"Santorelli","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.nmd.2003.12.004_BIB79","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/1531-8249(200101)49:1<106::AID-ANA16>3.0.CO;2-T","article-title":"A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients","volume":"49","author":"Corona","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB80","doi-asserted-by":"crossref","first-page":"e74","DOI":"10.1093\/nar\/29.15.e74","article-title":"The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations","volume":"29","author":"Taylor","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2003.12.004_BIB81","doi-asserted-by":"crossref","first-page":"e89","DOI":"10.1093\/nar\/28.20.e89","article-title":"Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography","volume":"28","author":"van Den Bosch","year":"2000","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.nmd.2003.12.004_BIB82","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1038\/35047064","article-title":"Mitochondrial genome variation and the origin of modern humans","volume":"408","author":"Ingman","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2003.12.004_BIB83","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1086\/339933","article-title":"Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups","volume":"70","author":"Herrnstadt","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2003.12.004_BIB84","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/j.nmd.2003.12.004_BIB85","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/humu.1380030311","article-title":"A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness","volume":"3","author":"Reid","year":"1994","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2003.12.004_BIB86","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1002\/ana.410440409","article-title":"Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNASer(UCN) gene","volume":"44","author":"Jaksch","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2003.12.004_BIB87","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1212\/WNL.52.9.1905","article-title":"Maternally-inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene","volume":"52","author":"Sue","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2003.12.004_BIB88","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P","article-title":"The epidemiology of pathogenic mitochondrial DNA mutations","volume":"48","author":"Chinnery","year":"2000","journal-title":"Ann Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896604000045?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896604000045?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:52:27Z","timestamp":1760773947000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896604000045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4]]},"references-count":88,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,4]]}},"alternative-id":["S0960896604000045"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2003.12.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2004,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The diagnosis of mitochondrial muscle disease","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2003.12.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}