COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy

INTRODUCTION: Primary coenzyme Q10 (CoQ10) deficiencies are a group of mitochondrial disorders that has proven responsiveness to replacement therapy. Mutations in enzymes involved in the biosynthesis of CoQ10 genes are associated with these deficits. The clinical presentation of this rare autosomal...

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Detalles Bibliográficos
Autores principales: Justine Perrin, R., Rousset‐Rouvière, Caroline, Garaix, Florentine, Cano, Aline, Conrath, John, Boyer, Olivia, Tsimaratos, Michel
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/PMC7358665/
https://www.ncbi.nlm.nih.gov/pubmed/32685349
http://dx.doi.org/10.1002/jmd2.12068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358665/
https://www.ncbi.nlm.nih.gov/pubmed/32685349
http://dx.doi.org/10.1002/jmd2.12068

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