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...
| Główni autorzy: | , |
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| Format: | Artykuł |
| Język: | English |
| Wydane: |
BMC
2023-04-01
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| Seria: | BMC Medical Genomics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s12920-023-01513-y |