| H00473 | |
| H number | H00473 |
| Name | Mitochondrial complex I deficiency |
| 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 | Inherited metabolic disorder, Mitochondrial disease |
| Network | nt06529(H00473) Thermogenesis |
| 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] (MC1DN39) NDUFB7 [HSA:4713] [KO:K03963] 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 620135 |
| Reference | PMID:19336460 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 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 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 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 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 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 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 Ann Neurol 49:195-201 (2001) DOI:10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 PMID:33502047 (NDUFB7) AUTHORS Correia SP, Moedas MF, Naess K, Bruhn H, Maffezzini C, Calvo-Garrido J, Lesko N, Wibom R, Schober FA, Jemt A, Stranneheim H, Freyer C, Wedell A, Wredenberg A TITLE Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. JOURNAL Hum Mutat 42:378-384 (2021) DOI:10.1002/humu.24173 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 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 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 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 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 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 |