Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

Journal of the Neurological Sciences - Tập 209 - Trang 61-63 - 2003
Michelangelo Mancuso1, Massimiliano Filosto1, J.Clarke Stevens2, Marc Patterson1,3, Sara Shanske1, Sindu Krishna1, Salvatore DiMauro1
1Department of Neurology, 4-420 Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
2Department of Neurology, Mayo Clinic, Rochester, MN, USA
3Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA

Tài liệu tham khảo

DiMauro, 2001, Mitochondrial DNA mutations in human disease, Am. J. Med. Genet., 106, 18, 10.1002/ajmg.1392 Dumoulin, 1996, A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance, Mol. Cell. Probes, 10, 389, 10.1006/mcpr.1996.0053 Andreu, 1998, Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy, Neurology, 51, 1444, 10.1212/WNL.51.5.1444 Andreu, 1999, A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria, Ann. Neurol., 45, 127, 10.1002/1531-8249(199901)45:1<127::AID-ART20>3.0.CO;2-Y Andreu, 1999, Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA, New Engl. J. Med., 341, 1037, 10.1056/NEJM199909303411404 Keightley, 2000, Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene, Am. J. Hum. Genet., 67, 1400, 10.1086/316900 Lamantea, 2002, A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined defect of complexes I and III, Neuromuscul. Disord., 12, 49, 10.1016/S0960-8966(01)00244-9 Anderson, 1981, Sequence and organization of the human mitochondrial genome, Nature, 290, 457, 10.1038/290457a0 De Coo, 1999, A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome, Ann. Neurol., 45, 130, 10.1002/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z Wibrand, 2001, Multisystem disorder associated with a missense mutation in the cytochrome b gene, Ann. Neurol., 50, 540, 10.1002/ana.1224 Schuelke, 2002, Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation, Ann. Neurol., 51, 388, 10.1002/ana.10151 Andreu, 2000, A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy, Pediatr. Res., 48, 311, 10.1203/00006450-200009000-00008 Iwata, 1998, Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex, Science, 281, 64, 10.1126/science.281.5373.64 Schwartz, 2002, Paternal inheritance of mitochondrial DNA, New Engl. J. Med., 347, 576, 10.1056/NEJMoa020350