| H00473 | |
| H番号 | H00473 |
| 名称 | ミトコンドリア複合体 I 欠損症 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | nt06529(H00473) Thermogenesis |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:19336460 著者 Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA タイトル Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. 雑誌 Brain 132:833-42 (2009) DOI:10.1093/brain/awp058 PMID:9463323 (NDUFS4) 著者 van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J タイトル 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. 雑誌 Am J Hum Genet 62:262-8 (1998) DOI:10.1086/301716 PMID:9837812 (NDUFS8) 著者 Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L タイトル The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. 雑誌 Am J Hum Genet 63:1598-608 (1998) DOI:10.1086/302154 PMID:15269216 (NDUFS7) 著者 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 タイトル Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. 雑誌 J Biol Chem 279:40328-36 (2004) DOI:10.1074/jbc.M408068200 PMID:10080174 (NDUFV1) 著者 Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L タイトル Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 雑誌 Nat Genet 21:260-1 (1999) DOI:10.1038/6772 PMID:11349233 (NDUFS1) 著者 Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A タイトル Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 雑誌 Am J Hum Genet 68:1344-52 (2001) DOI:10.1086/320603 PMID:11220739 (NDUFS2) 著者 Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L タイトル Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 雑誌 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) 著者 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 タイトル Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. 雑誌 Hum Mutat 21:582-6 (2003) DOI:10.1002/humu.10225 PMID:14729820 (NDUFS3) 著者 Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P タイトル Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 雑誌 J Med Genet 41:14-7 (2004) DOI:10.1136/jmg.2003.014316 PMID:15372108 (NDUFS6) 著者 Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR タイトル NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 雑誌 J Clin Invest 114:837-45 (2004) DOI:10.1172/JCI20683 PMID:16200211 (NDUFAF2) 著者 Ogilvie I, Kennaway NG, Shoubridge EA タイトル A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 雑誌 J Clin Invest 115:2784-92 (2005) DOI:10.1172/JCI26020 PMID:21931170 (NDUFAF1) 著者 Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S タイトル Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. 雑誌 J Med Genet 48:691-7 (2011) DOI:10.1136/jmedgenet-2011-100340 PMID:17262856 (NDUFA1) 著者 Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J タイトル X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 雑誌 Ann Neurol 61:73-83 (2007) DOI:10.1002/ana.21036 PMID:18513682 (NDUFA2) 著者 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 タイトル NDUFA2 complex I mutation leads to Leigh disease. 雑誌 Am J Hum Genet 82:1306-15 (2008) DOI:10.1016/j.ajhg.2008.05.007 PMID:18306244 (NDUFA11) 著者 Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O タイトル Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. 雑誌 Ann Neurol 63:405-8 (2008) DOI:10.1002/ana.21332 PMID:18179882 (NDUFAF4) 著者 Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, Lorberboum-Galski H, Elpeleg O タイトル C6ORF66 is an assembly factor of mitochondrial complex I. 雑誌 Am J Hum Genet 82:32-8 (2008) DOI:10.1016/j.ajhg.2007.08.003 PMID:18940309 (NDUFAF5) 著者 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 タイトル Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 雑誌 Am J Hum Genet 83:468-78 (2008) DOI:10.1016/j.ajhg.2008.09.009 PMID:18614015 (NDUFAF6) 著者 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 タイトル A mitochondrial protein compendium elucidates complex I disease biology. 雑誌 Cell 134:112-23 (2008) DOI:10.1016/j.cell.2008.06.016 PMID:19463981 (NDUFAF3) 著者 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 タイトル Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 雑誌 Am J Hum Genet 84:718-27 (2009) DOI:10.1016/j.ajhg.2009.04.020 PMID:20818383 (FOXRED1 NUBPL) 著者 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 タイトル High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 雑誌 Nat Genet 42:851-8 (2010) DOI:10.1038/ng.659 PMID:17564966 (ACAD9) 著者 He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J タイトル A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. 雑誌 Am J Hum Genet 81:87-103 (2007) DOI:10.1086/519219 PMID:21150889 (NDUFA10) 著者 Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP タイトル NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 雑誌 Eur J Hum Genet 19:270-4 (2011) DOI:10.1038/ejhg.2010.204 PMID:21617257 (NDUFA12) 著者 Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L タイトル Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. 雑誌 J Med Genet 48:737-40 (2011) DOI:10.1136/jmg.2011.088856 PMID:22200994 (NDUFB9) 著者 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 タイトル Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 雑誌 J Med Genet 49:83-9 (2012) DOI:10.1136/jmedgenet-2011-100577 PMID:22277967 (NDUFB3) 著者 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 タイトル Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 雑誌 Sci Transl Med 4:118ra10 (2012) DOI:10.1126/scitranslmed.3003310 PMID:22114105 (NDUFA9) 著者 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 タイトル Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 雑誌 J Med Genet 49:10-5 (2012) DOI:10.1136/jmedgenet-2011-100466 PMID:22499348 (MTFMT) 著者 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 タイトル Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 雑誌 J Med Genet 49:277-83 (2012) DOI:10.1136/jmedgenet-2012-100846 PMID:25901006 (NDUFA13) 著者 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 タイトル Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 雑誌 Hum Mol Genet 24:3948-55 (2015) DOI:10.1093/hmg/ddv133 PMID:27374773 (TMEM126B) 著者 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 タイトル Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 雑誌 Am J Hum Genet 99:208-16 (2016) DOI:10.1016/j.ajhg.2016.05.022 PMID:26741492 (NDUFB11) 著者 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 タイトル A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 雑誌 PLoS Genet 12:e1005679 (2016) DOI:10.1371/journal.pgen.1005679 PMID:28604674 (TIMMDC1) 著者 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 タイトル Genetic diagnosis of Mendelian disorders via RNA sequencing. 雑誌 Nat Commun 8:15824 (2017) DOI:10.1038/ncomms15824 PMID:29429571 (NDUFB8) 著者 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 タイトル NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 雑誌 Am J Hum Genet 102:460-467 (2018) DOI:10.1016/j.ajhg.2018.01.008 PMID:30245030 (NDUFA6) 著者 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 タイトル Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 雑誌 Am J Hum Genet 103:592-601 (2018) DOI:10.1016/j.ajhg.2018.08.013 PMID:31866046 (NDUFAF8) 著者 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 タイトル Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. 雑誌 Am J Hum Genet 106:92-101 (2020) DOI:10.1016/j.ajhg.2019.12.001 PMID:28040730 (NDUFB10) 著者 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 タイトル 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. 雑誌 Hum Mol Genet 26:702-716 (2017) DOI:10.1093/hmg/ddw431 PMID:32969598 (NDUFC2) 著者 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 タイトル Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. 雑誌 EMBO Mol Med 12:e12619 (2020) DOI:10.15252/emmm.202012619 PMID:32385911 (NDUFA8) 著者 Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y タイトル A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. 雑誌 Clin Genet 98:155-165 (2020) DOI:10.1111/cge.13773 PMID:33502047 (NDUFB7) 著者 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 タイトル Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. 雑誌 Hum Mutat 42:378-384 (2021) DOI:10.1002/humu.24173 PMID:10775530 (ND1) 著者 Musumeci O, Andreu AL, Shanske S, Bresolin N, Comi GP, Rothstein R, Schon EA, DiMauro S タイトル Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. 雑誌 Am J Hum Genet 66:1900-4 (2000) DOI:10.1086/302927 PMID:12192017 (ND2) 著者 Schwartz M, Vissing J タイトル Paternal inheritance of mitochondrial DNA. 雑誌 N Engl J Med 347:576-80 (2002) DOI:10.1056/NEJMoa020350 PMID:11456298 (ND3) 著者 Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM タイトル Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 雑誌 Ann Neurol 50:104-7 (2001) DOI:10.1002/ana.1084 PMID:12707444 (ND4) 著者 Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW タイトル Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. 雑誌 Neurology 60:1357-9 (2003) DOI:10.1212/01.wnl.0000055869.99975.4b PMID:11938446 (ND5) 著者 Taylor RW, Morris AA, Hutchinson M, Turnbull DM タイトル Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 雑誌 Eur J Hum Genet 10:141-4 (2002) DOI:10.1038/sj.ejhg.5200773 PMID:14595656 (ND6) 著者 Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG タイトル Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 雑誌 Ann Neurol 54:665-9 (2003) DOI:10.1002/ana.10734 |