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

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 tre...

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Bibliographic Details
Main Authors: Mahsa Hojabri, Abolfazl Gilani, Rana Irilouzadian, Habibe Nejad biglari, Roham Sarmadian
Format: Article
Language:English
Published: SAGE Publishing 2023-07-01
Series:Clinical Medicine Insights: Case Reports
Online Access:https://doi.org/10.1177/11795476231188061

Internet

https://doi.org/10.1177/11795476231188061

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