Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature

BACKGROUND: Primary deficiency of coenzyme Q(10) deficiency-4 (CoQ(10)D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. CASE REPORT: We provide a case of adolescence-onset ataxia, head tr...

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Detalles Bibliográficos
Autores principales: Hojabri, Mahsa, Gilani, Abolfazl, Irilouzadian, Rana, Nejad biglari, Habibe, Sarmadian, Roham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354825/
https://www.ncbi.nlm.nih.gov/pubmed/37476682
http://dx.doi.org/10.1177/11795476231188061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354825/
https://www.ncbi.nlm.nih.gov/pubmed/37476682
http://dx.doi.org/10.1177/11795476231188061

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