Mechanisms of disease: Mitochondrial respiratory-chain diseases

被引：1210
作者：
DiMauro, S
Schon, EA
机构：
[1] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA
[2] Columbia Univ Coll Phys & Surg, Dept Genet & Dev, New York, NY 10032 USA
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 2003年 / 348卷 / 26期
关键词：
D O I：
10.1056/NEJMra022567
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：2656 / 2668
页数：13
相关论文
共 86 条
[1]   OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [J].
Alexander, C ;
Votruba, M ;
Pesch, UEA ;
Thiselton, DL ;
Mayer, S ;
Moore, A ;
Rodriguez, M ;
Kellner, U ;
Leo-Kottler, B ;
Auburger, G ;
Bhattacharya, SS ;
Wissinger, B .
NATURE GENETICS, 2000, 26 (02) :211-215
[2]   Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [J].
Andreu, AL ;
Hanna, MG ;
Reichmann, H ;
Bruno, C ;
Penn, AS ;
Tanji, K ;
Pallotti, F ;
Iwata, S ;
Bonilla, E ;
Lach, B ;
Morgan-Hughes, J ;
DiMauro, S .
NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (14) :1037-1044
[3]   Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy [J].
Antonicka, H ;
Mattman, A ;
Carlson, CG ;
Glerum, DM ;
Hoffbuhr, KC ;
Leary, SC ;
Kennaway, NG ;
Shoubridge, EA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (01) :101-114
[4]   Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene [J].
Bai, YD ;
Hájek, P ;
Chomyn, A ;
Chan, E ;
Seo, BB ;
Matsuno-Yagi, A ;
Yagi, T ;
Attardi, G .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (42) :38808-38813
[5]   X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) [J].
Barth, PG ;
Wanders, RJA ;
Vreken, P ;
Janssen, EAM ;
Lam, J ;
Baas, F .
JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) :555-567
[6]   Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma [J].
Baysal, BE ;
Ferrell, RE ;
Willett-Brozick, JE ;
Lawrence, EC ;
Myssiorek, D ;
Bosch, A ;
van der Mey, A ;
Taschner, PEM ;
Rubinstein, WS ;
Myers, EN ;
Richard, CW ;
Cornelisse, CJ ;
Devilee, P ;
Devlin, B .
SCIENCE, 2000, 287 (5454) :848-851
[7]  
Beal M.F., 2002, MITOCHONDRIAL DISORD, P17, DOI [10.1007/978-2-8178-0929-8_3, DOI 10.1007/978-2-8178-0929-8_3]
[8]  
Birch-Machin MA, 2000, ANN NEUROL, V48, P330, DOI 10.1002/1531-8249(200009)48:3<330::AID-ANA7>3.0.CO
[9]  
2-A
[10]   Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy [J].
Bohlega, S ;
Tanji, K ;
Santorelli, FM ;
Hirano, M ;
alJishi, A ;
DiMauro, S .
NEUROLOGY, 1996, 46 (05) :1329-1334
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