A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III

Neuromuscular Disorders - Tập 12 - Trang 49-52 - 2002
Eleonora Lamantea1, Franco Carrara1, Caterina Mariotti1, Lucia Morandi2, Valeria Tiranti1, Massimo Zeviani1
1Division of Biochemistry and Genetics, National Neurological Institute ‘C. Besta’ via Celoria, 11. 20133 Milan, Italy
2Division of Neuromuscular Disorders, ‘C. Besta’ National Neurological Institute, 20133 Milan, Italy

Tài liệu tham khảo

Zeviani, 1998, Mitochondrial disorders, Medicine, 77, 59, 10.1097/00005792-199801000-00006 Di Mauro, 1997, Mitochondrial encephalomyopathies, 201 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, 1999, Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA, N Engl J Med, 341, 1037, 10.1056/NEJM199909303411404 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 Valnot, 1999, A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency, Hum Genet, 104, 460, 10.1007/s004390050988 Keightley, 2000, Mitochondrial encephalomyopathy and complex III deficiency associated with stop-codon mutation in the cytochrome b gene, Am J Hum Genet, 67, 1400, 10.1086/316900 Andreu, 2000, A missense mutation in the mitochondrial cytochrome b gene in a revised case with histiocytoid cardiomyopathy, Pediatr Res, 48, 311, 10.1203/00006450-200009000-00008 Tiranti, 1999, A novel mutation (8342 G→A) in the mitochondrial tRNALys gene associated with progressive external ophtalmoplegia and myoclonus, Neuromusc Disord, 6, 66, 10.1016/S0960-8966(98)00103-5 Budde, 2000, Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene, Biochem Biophys Res Commun, 275, 63, 10.1006/bbrc.2000.3257