Early‐onset coenzyme Q10 deficiency associated with...

JIMD Reports 2020 / 07 Vol. 54; Iss. 1

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

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., Li
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Volume:
54
Journal:
JIMD Reports
DOI:
10.1002/jmd2.12107
Date:
July, 2020
File:
PDF, 2.19 MB
2020
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