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- Title
Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
- Authors
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.; Rocque Ferreira, Alessandra; Takata, Reinaldo I.; Hargreaves, Iain P.; Gorman, Gráinne S.; McFarland, Robert; Pierre, Germaine; Taylor, Robert W.
- Publication
Journal of Inherited Metabolic Disease Reports, 2020, Vol 54, Issue 1, p45
- ISSN
2192-8312
- Publication type
Article
- DOI
10.1002/jmd2.12107