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Early onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA Cytochrome C oxidase II gene

AuthorsCampos, Yolanda; Fernández-Moreno, Miguel Ángel ; Martín, Miguel A.; Bornstein, Belén ; Garesse, Rafael ; Arenas, Joaquín
Issue Date2001
CitationAnnals of Neurology 50(3): 409-413 (2001)
AbstractWe report the first nonsense mutation (G7896A) in the mtDNA gene for subunit II of cytochrome c oxidase (COX) in a patient with early-onset multisystem disease and COX deficiency in muscle. The mutation was heretoplasmic in muscle, blood, and fibroblasts from the patient and abundantly present in COX-deficient fibers, but less abundant in COX-positive fibers; it was not found in blood samples from the patient's asymptomatic maternal relatives. Immunoblot analysis showed a reduced concentration of both COX II and COX I polypeptides, suggesting impaired assembly of COX holoenzyme.
Identifiersdoi: 10.1002/ana.1141
issn: 0364-5134
e-issn: 1531-8249
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