KEGG   DISEASE: Mitochondrial complex I deficiency
Entry
H00473                      Disease                                
Name
Mitochondrial complex I deficiency
  Subgroup
Mitochondrial complex I deficiency, nuclear type (MC1DN)
Mitochondrial complex I deficiency, mitochondrial type
  Supergrp
Mitochondrial disease [DS:H01427]
Description
Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H00473  Mitochondrial complex I deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H00473  Mitochondrial complex I deficiency
Related
pathway
hsa00190  Oxidative phosphorylation
hsa04714  Thermogenesis
hsa04723  Retrograde endocannabinoid signaling
Gene
(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937]
(MC1DN2) NDUFS8 [HSA:4728] [KO:K03941]
(MC1DN3) NDUFS7 [HSA:374291] [KO:K03940]
(MC1DN4) NDUFV1 [HSA:4723] [KO:K03942]
(MC1DN5) NDUFS1 [HSA:4719] [KO:K03934]
(MC1DN6) NDUFS2 [HSA:4720] [KO:K03935]
(MC1DN7) NDUFV2 [HSA:4729] [KO:K03943]
(MC1DN8) NDUFS3 [HSA:4722] [KO:K03936]
(MC1DN9) NDUFS6 [HSA:4726] [KO:K03939]
(MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160]
(MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159]
(MC1DN12) NDUFA1 [HSA:4694] [KO:K03945]
(MC1DN13) NDUFA2 [HSA:4695] [KO:K03946]
(MC1DN14) NDUFA11 [HSA:126328] [KO:K03956]
(MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161]
(MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162]
(MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163]
(MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008]
(MC1DN19) FOXRED1 [HSA:55572] [KO:K18166]
(MC1DN20) ACAD9 [HSA:28976] [KO:K15980]
(MC1DN21) NUBPL [HSA:80224] [KO:K03593]
(MC1DN22) NDUFA10 [HSA:4705] [KO:K03954]
(MC1DN23) NDUFA12 [HSA:55967] [KO:K11352]
(MC1DN24) NDUFB9 [HSA:4715] [KO:K03965]
(MC1DN25) NDUFB3 [HSA:4709] [KO:K03959]
(MC1DN26) NDUFA9 [HSA:4704] [KO:K03953]
(MC1DN27) MTFMT [HSA:123263] [KO:K00604]
(MC1DN28) NDUFA13 [HSA:51079] [KO:K11353]
(MC1DN29) TMEM126B [HSA:55863] [KO:K18165]
(MC1DN30) NDUFB11 [HSA:54539] [KO:K11351]
(MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505]
(MC1DN32) NDUFB8 [HSA:4714] [KO:K03964]
(MC1DN33) NDUFA6 [HSA:4700] [KO:K03950]
(MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726]
(MC1DN35) NDUFB10 [HSA:4716] [KO:K03966]
(MC1DN36) NDUFC2 [HSA:4718] [KO:K03968]
(MC1DN37) NDUFA8 [HSA:4702] [KO:K03952]
ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND3 [HSA:4537] [KO:K03880]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
Other DBs
ICD-11: 5C53.2Y
ICD-10: E88.8
MeSH: C537475
OMIM: 252010 618222 618224 618225 618226 618228 618229 618230 618232 618233 301020 618234 618235 618236 618237 618238 618239 618240 618241 611126 618242 618243 618244 618245 618246 618247 618248 618249 618250 301021 618251 618252 618253 618776 619003 619170 619272
Reference
  Authors
Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA
  Title
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
  Journal
Brain 132:833-42 (2009)
DOI:10.1093/brain/awp058
Reference
PMID:9463323 (NDUFS4)
  Authors
van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J
  Title
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.
  Journal
Am J Hum Genet 62:262-8 (1998)
DOI:10.1086/301716
Reference
PMID:9837812 (NDUFS8)
  Authors
Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L
  Title
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
  Journal
Am J Hum Genet 63:1598-608 (1998)
DOI:10.1086/302154
Reference
PMID:15269216 (NDUFS7)
  Authors
Visch HJ, Rutter GA, Koopman WJ, Koenderink JB, Verkaart S, de Groot T, Varadi A, Mitchell KJ, van den Heuvel LP, Smeitink JA, Willems PH
  Title
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
  Journal
J Biol Chem 279:40328-36 (2004)
DOI:10.1074/jbc.M408068200
Reference
PMID:10080174 (NDUFV1)
  Authors
Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L
  Title
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
  Journal
Nat Genet 21:260-1 (1999)
DOI:10.1038/6772
Reference
PMID:11349233 (NDUFS1)
  Authors
Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A
  Title
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
  Journal
Am J Hum Genet 68:1344-52 (2001)
DOI:10.1086/320603
Reference
PMID:11220739 (NDUFS2)
  Authors
Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L
  Title
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
  Journal
Reference
PMID:12754703 (NDUFV2)
  Authors
Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A
  Title
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
  Journal
Hum Mutat 21:582-6 (2003)
DOI:10.1002/humu.10225
Reference
PMID:14729820 (NDUFS3)
  Authors
Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P
  Title
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
  Journal
J Med Genet 41:14-7 (2004)
DOI:10.1136/jmg.2003.014316
Reference
PMID:15372108 (NDUFS6)
  Authors
Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR
  Title
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
  Journal
J Clin Invest 114:837-45 (2004)
DOI:10.1172/JCI20683
Reference
PMID:16200211 (NDUFAF2)
  Authors
Ogilvie I, Kennaway NG, Shoubridge EA
  Title
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
  Journal
J Clin Invest 115:2784-92 (2005)
DOI:10.1172/JCI26020
Reference
PMID:21931170 (NDUFAF1)
  Authors
Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S
  Title
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
  Journal
J Med Genet 48:691-7 (2011)
DOI:10.1136/jmedgenet-2011-100340
Reference
PMID:17262856 (NDUFA1)
  Authors
Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J
  Title
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
  Journal
Ann Neurol 61:73-83 (2007)
DOI:10.1002/ana.21036
Reference
PMID:18513682 (NDUFA2)
  Authors
Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP
  Title
NDUFA2 complex I mutation leads to Leigh disease.
  Journal
Am J Hum Genet 82:1306-15 (2008)
DOI:10.1016/j.ajhg.2008.05.007
Reference
PMID:18306244 (NDUFA11)
  Authors
Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O
  Title
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
  Journal
Ann Neurol 63:405-8 (2008)
DOI:10.1002/ana.21332
Reference
PMID:18179882 (NDUFAF4)
  Authors
Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O
  Title
C6ORF66 is an assembly factor of mitochondrial complex I.
  Journal
Am J Hum Genet 82:32-8 (2008)
DOI:10.1016/j.ajhg.2007.08.003
Reference
PMID:18940309 (NDUFAF5)
  Authors
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR
  Title
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
  Journal
Am J Hum Genet 83:468-78 (2008)
DOI:10.1016/j.ajhg.2008.09.009
Reference
PMID:18614015 (NDUFAF6)
  Authors
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK
  Title
A mitochondrial protein compendium elucidates complex I disease biology.
  Journal
Cell 134:112-23 (2008)
DOI:10.1016/j.cell.2008.06.016
Reference
PMID:19463981 (NDUFAF3)
  Authors
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG
  Title
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
  Journal
Am J Hum Genet 84:718-27 (2009)
DOI:10.1016/j.ajhg.2009.04.020
Reference
PMID:20818383 (FOXRED1 NUBPL)
  Authors
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK
  Title
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
  Journal
Nat Genet 42:851-8 (2010)
DOI:10.1038/ng.659
Reference
PMID:17564966 (ACAD9)
  Authors
He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
  Title
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
  Journal
Am J Hum Genet 81:87-103 (2007)
DOI:10.1086/519219
Reference
PMID:21150889 (NDUFA10)
  Authors
Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP
  Title
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
  Journal
Eur J Hum Genet 19:270-4 (2011)
DOI:10.1038/ejhg.2010.204
Reference
PMID:21617257 (NDUFA12)
  Authors
Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L
  Title
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
  Journal
J Med Genet 48:737-40 (2011)
DOI:10.1136/jmg.2011.088856
Reference
PMID:22200994 (NDUFB9)
  Authors
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rotig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H
  Title
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
  Journal
J Med Genet 49:83-9 (2012)
DOI:10.1136/jmedgenet-2011-100577
Reference
PMID:22277967 (NDUFB3)
  Authors
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK
  Title
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
  Journal
Sci Transl Med 4:118ra10 (2012)
DOI:10.1126/scitranslmed.3003310
Reference
PMID:22114105 (NDUFA9)
  Authors
van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ
  Title
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
  Journal
J Med Genet 49:10-5 (2012)
DOI:10.1136/jmedgenet-2011-100466
Reference
PMID:22499348 (MTFMT)
  Authors
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H
  Title
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
  Journal
J Med Genet 49:277-83 (2012)
DOI:10.1136/jmedgenet-2012-100846
Reference
PMID:25901006 (NDUFA13)
  Authors
Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A
  Title
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
  Journal
Hum Mol Genet 24:3948-55 (2015)
DOI:10.1093/hmg/ddv133
Reference
PMID:27374773 (TMEM126B)
  Authors
Sanchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rotig A
  Title
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
  Journal
Am J Hum Genet 99:208-16 (2016)
DOI:10.1016/j.ajhg.2016.05.022
Reference
PMID:26741492 (NDUFB11)
  Authors
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y
  Title
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
  Journal
PLoS Genet 12:e1005679 (2016)
DOI:10.1371/journal.pgen.1005679
Reference
PMID:28604674 (TIMMDC1)
  Authors
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Konarikova E, Repp B, Kastenmuller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Glaser D, Taylor RW, Ghezzi D, Mayr JA, Rotig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H
  Title
Genetic diagnosis of Mendelian disorders via RNA sequencing.
  Journal
Nat Commun 8:15824 (2017)
DOI:10.1038/ncomms15824
Reference
PMID:29429571 (NDUFB8)
  Authors
Piekutowska-Abramczuk D, Assouline Z, Matakovic L, Feichtinger RG, Konarikova E, Jurkiewicz E, Stawinski P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rotig A, Prokisch H, Pronicka E, Ploski R, Barcia G, Mayr JA
  Title
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
  Journal
Am J Hum Genet 102:460-467 (2018)
DOI:10.1016/j.ajhg.2018.01.008
Reference
PMID:30245030 (NDUFA6)
  Authors
Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjornstad A, Henneke L, Gartner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW
  Title
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
  Journal
Am J Hum Genet 103:592-601 (2018)
DOI:10.1016/j.ajhg.2018.08.013
Reference
PMID:31866046 (NDUFAF8)
  Authors
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW
  Title
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
  Journal
Am J Hum Genet 106:92-101 (2020)
DOI:10.1016/j.ajhg.2019.12.001
Reference
PMID:28040730 (NDUFB10)
  Authors
Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J
  Title
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
  Journal
Hum Mol Genet 26:702-716 (2017)
DOI:10.1093/hmg/ddw431
Reference
PMID:32969598 (NDUFC2)
  Authors
Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW
  Title
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
  Journal
EMBO Mol Med 12:e12619 (2020)
DOI:10.15252/emmm.202012619
Reference
PMID:32385911 (NDUFA8)
  Authors
Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y
  Title
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
  Journal
Clin Genet 98:155-165 (2020)
DOI:10.1111/cge.13773
Reference
PMID:10775530 (ND1)
  Authors
Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S
  Title
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
  Journal
Am J Hum Genet 66:1900-4 (2000)
DOI:10.1086/302927
Reference
PMID:12192017 (ND2)
  Authors
Schwartz M, Vissing J
  Title
Paternal inheritance of mitochondrial DNA.
  Journal
N Engl J Med 347:576-80 (2002)
DOI:10.1056/NEJMoa020350
Reference
PMID:11456298 (ND3)
  Authors
Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM
  Title
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
  Journal
Ann Neurol 50:104-7 (2001)
DOI:10.1002/ana.1084
Reference
PMID:12707444 (ND4)
  Authors
Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW
  Title
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.
  Journal
Neurology 60:1357-9 (2003)
DOI:10.1212/01.wnl.0000055869.99975.4b
Reference
PMID:11938446 (ND5)
  Authors
Taylor RW, Morris AA, Hutchinson M, Turnbull DM
  Title
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
  Journal
Eur J Hum Genet 10:141-4 (2002)
DOI:10.1038/sj.ejhg.5200773
Reference
PMID:14595656 (ND6)
  Authors
Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG
  Title
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
  Journal
Ann Neurol 54:665-9 (2003)
DOI:10.1002/ana.10734

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