Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
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چکیده
منابع مشابه
Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia
Mitochondrial complex I, the largest component of the mitochondrial respiratory chain, comprises 44 subunits of which 7 are encoded by the mitochondrial genome and the remainder by the nuclear genome. Isolated complex I deficiencies represent a major contribution within the group of respiratory chain defects. We report an atypical case carrying a homozygous NDUFS4 missense mutation, with late-o...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2017
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000205