Follow-Up in Carriers of the ‘MELAS’ Mutation without Strokes
نویسندگان
چکیده
منابع مشابه
Follow-up in carriers of the 'MELAS' mutation without strokes.
Eight carriers of the A3243G mutation of mitochondrial DNA without stroke-like episodes were monitored for up to 7 years in clinical and metabolic studies, by magnetic resonance imaging (MRI) and positron emission tomography (PET). None developed mitochondrial encephalopathy (MELAS), but 2 developed diabetes mellitus, 1 terminal kidney failure and 2 cardiomyopathy. One patient improved markedly...
متن کاملMELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...
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ژورنال
عنوان ژورنال: European Neurology
سال: 1998
ISSN: 0014-3022,1421-9913
DOI: 10.1159/000007892