Article

A Novel Coq8a Mutation in a Case with Juvenile Onset Coq10d4: Case Report and Literature Review

2022-01-04

Abstract excerpt

<title>Abstract</title> <p>Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Molecular pathology responsible for clinical findings is mitochondrial respiratory chain dysfunction. The main clinical manifestation involves early onset exercise intolerance, progressive cerebellar ataxia and movement disorders....

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Literature Corpus work: 1af8e44d-60d1-5a42-b591-f0c7a18b43bd
DOI: 10.21203/rs.3.rs-1158161/v1

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