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Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Por...

Publicado em: Livro de abstracts do congresso LIMPE_DISMOV 2012 ; Introduction: Defects of mitochondrial complex III (CIII) are a relatively rare cause of mitochondrial dysfunction. The complex catalyzes the electron transfer from reduced coenzyme Q to cytochrome c and is composed of 11 subunits, one of which (MT-CYB) is mtDNA encoded. Mutations in MT-CYB and in assembly factor BCS1L account for the vast major...