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

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

Abstract 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 mitochondr...

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Bibliographic Details
Main Authors: Ana Cotta, Charlotte L. Alston, Sidney Baptista‐Junior, Julia F. Paim, Elmano Carvalho, Monica M. Navarro, Marie Appleton, Yi Shiau Ng, Jaquelin Valicek, Antonio L. da‐Cunha‐Junior, Maria I. Lima, Alessandra de laRocque Ferreira, Reinaldo I. Takata, Iain P. Hargreaves, Gráinne S. Gorman, Robert McFarland, Germaine Pierre, Robert W. Taylor
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:JIMD Reports
Subjects:
ataxia
CoQ10
COQ8A deletion
encephalomyopathy
mitochondrial disease
Online Access:https://doi.org/10.1002/jmd2.12107

Internet

https://doi.org/10.1002/jmd2.12107

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