Article
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.
Annals of neurology - 1 Sept 2001
Campos Y, García-Redondo A, Fernández-Moreno M A, Martínez-Pardo M, Goda G, Rubio J C, Martín M A, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J
Abstract excerpt
We 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 heteroplasmic 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...
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