Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous subtype of mitochondrial disease. We report two girls with ataxia and mitochondrial respiratory chain deficiency who were shown to have primary CoQ10 deficiency. Muscle histochemistry displayed signs of mitochondrial dysfu...

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Detalles Bibliográficos
Autores principales: Cotta, Ana, Alston, Charlotte L., Baptista‐Junior, Sidney, Paim, Julia F., Carvalho, Elmano, Navarro, Monica M., Appleton, Marie, Ng, Yi Shiau, Valicek, Jaquelin, da‐Cunha‐Junior, Antonio L., Lima, Maria I., de la Rocque Ferreira, Alessandra, Takata, Reinaldo I., Hargreaves, Iain P., Gorman, Gráinne S., McFarland, Robert, Pierre, Germaine, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358671/
https://www.ncbi.nlm.nih.gov/pubmed/32685350
http://dx.doi.org/10.1002/jmd2.12107

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