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• W2076376513 startingPage "070925014937001" @default.
• W2076376513 abstract "BACKGROUND, OBJECTIVE AND METHODS: We describe a female patient with a mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome. As a child, she developed epilepsy and stroke-like episodes giving cognitive impairment and ataxia but no hearing impairment. At the age of 44 years, she suffered a cerebral sinus thrombosis which was warfarin treated. One month later, she developed an episode of severe acidosis associated with encephalopathy and myelopathy.She was found to harbour a 7512T>C mutation in the mitochondrial encoded tRNA(Ser(UCN)) gene (MTTS1). The mutation load was 91% in muscle and 24% in blood. Enzyme histochemical analysis of the muscle tissue showed numerous cytochrome c oxidase (COX)-negative fibres. Restriction fragment length polymorphism (RFLP) analysis of single muscle fibres showed significantly higher level (median 97%, range: 94-99%) of the mutation in the COX-negative fibres compared with COX-positive fibres (median 36%, range: 12-91%), demonstrating the pathogenic effect of the mutation. Different levels of heteroplasmy (range 34-61%) were detected in hair shafts analysed by RFLP.This case adds to the spectrum of clinical presentations, i.e. sinus thrombosis, in patients having MTTS1 mutations." @default.
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• W2076376513 date "2007-09-25" @default.
• W2076376513 modified "2023-10-17" @default.
• W2076376513 title "MELAS syndrome in a patient with a point mutation in MTTS1" @default.
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• W2076376513 doi "https://doi.org/10.1111/j.1600-0404.2007.00913.x" @default.
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