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

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, at...

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Detalles Bibliográficos
Autores principales: Chen, Liqing, Liu, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10124009/
https://www.ncbi.nlm.nih.gov/pubmed/37095481
http://dx.doi.org/10.1186/s12920-023-01513-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10124009/
https://www.ncbi.nlm.nih.gov/pubmed/37095481
http://dx.doi.org/10.1186/s12920-023-01513-y

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