Primary coenzyme Q10 deficiency due to COQ8A gene mutations

BACKGROUND: Primary deficiency of coenzyme Q10 deficiency‐4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early‐onset exercise intolerance, progressive cerebellar ataxia, and movement disorders. COQ8A...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Linwei, Ashizawa, Tetsuo, Peng, Dantao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549598/
https://www.ncbi.nlm.nih.gov/pubmed/32743982
http://dx.doi.org/10.1002/mgg3.1420

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549598/
https://www.ncbi.nlm.nih.gov/pubmed/32743982
http://dx.doi.org/10.1002/mgg3.1420

Ejemplares similares