Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations
نویسندگان
چکیده
منابع مشابه
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh-like syndromes or cardiomyopathy. In this study, a combination of denaturing ...
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ژورنال
عنوان ژورنال: Neurology
سال: 2004
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000125251.56131.65