Cargando…

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW

Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Shuang, Miao, Jing, Feng, Jiachun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281247/
https://www.ncbi.nlm.nih.gov/pubmed/34276539
http://dx.doi.org/10.3389/fneur.2021.679302