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Article

Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.

BMC medical genomics - 24 Apr 2023

Chen Liqing, Liu Yan

Abstract excerpt

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 delay, ataxia, hypotonia, dysarthria, strabismus, visual impairment and areflexia. An examination of nerve conduction showed...

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Identifiers

PMID: 37095481
DOI: 10.1186/s12920-023-01513-y
PMCID: PMC10124009

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