Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review
Abstract Background The deficiency of cytochrome c oxidase 20 is a rare autosomal recessive mitochondrial disorder characterized by ataxia, dysarthria, dystonia and sensory neuropathy. Case presentation In this study, we describe a patient from a non-consanguineous family exhibiting developmental de...
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BMC,
2023-04-01T00:00:00Z.
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