Mechanisms of disease: Mitochondrial respiratory-chain diseases

[1] OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [J]. NATURE GENETICS, 2000, 26 (02) : 211 - 215

[2] Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [J]. 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]. 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]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (42) : 38808 - 38813

[5] X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) : 555 - 567

[6] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma [J]. 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]. NEUROLOGY, 1996, 46 (05) : 1329 - 1334

[1] OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [J]. NATURE GENETICS, 2000, 26 (02) : 211 - 215

[2] Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [J]. 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]. 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]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (42) : 38808 - 38813

[5] X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060) [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) : 555 - 567

[6] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma [J]. 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]. NEUROLOGY, 1996, 46 (05) : 1329 - 1334