COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency
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DOI: 10.1002/ana.25517
Abstract: Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle–specific symptoms. read more here.
Keywords: cytochrome oxidase; deficiency; muscle specific; cox6a2 variants ... See more keywords