Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL
نویسندگان
چکیده
منابع مشابه
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
BACKGROUND Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene...
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ژورنال
عنوان ژورنال: Genes
سال: 2020
ISSN: 2073-4425
DOI: 10.3390/genes11111325