Cytochrome c Oxidase Deficiency Due to a Novel SCO2 Mutation Mimics Werdnig-Hoffmann Disease
نویسندگان
چکیده
منابع مشابه
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
BACKGROUND Mutations in the SCO2 gene have been associated with fatal cardioencephalomyopathy. OBJECTIVE To report a novel SCO2 mutation with prominent spinal cord involvement mimicking spinal muscular atrophy (Werdnig-Hoffmann disease). PATIENT AND METHODS An infant girl presented at birth with generalized weakness, hypotonia, and lactic acidosis. At 1 month of age she developed hypertroph...
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The prevalence of Werdnig-Hoffmann disease was found to be 0.66 per 10,000 livebirths in Hungary from 1973 to 1980. However, the true prevalence is estimated to be 1 per 10,000 livebirths, which exceeds the level of a previously published English study. There was no higher fetal death rate in previous and subsequent pregnancies of index patients' mothers. The occurrence in sibs was 32%, probabl...
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The biogenesis of eukaryotic COX (cytochrome c oxidase) requires several accessory proteins in addition to structural subunits and prosthetic groups. We have analysed the assembly state of COX and SCO2 protein levels in various tissues of six patients with mutations in SCO2 and SURF1. SCO2 is a copper-binding protein presumably involved in formation of the Cu(A) centre of the COX2 subunit. The ...
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We report a case of the Werdnig-Hoffmann disease in a 4-month-old male infant. The morphological study revealed perimysial fibrosis, variability in the size of muscle fibers, absence of target fibers, few central nuclei and normality in vessels, nerves and neuromuscular junctions. The morphometrical examination showed the existence of normal-sized and atrophic fibers in both fibrillar types, as...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2002
ISSN: 0003-9942
DOI: 10.1001/archneur.59.5.862