<i>COQ8A</i>-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

<i>COQ8A</i>-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

<i>COQ8A</i>-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy. However, due to variable ph...

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Bibliographic Details
Main Authors: Justyna Paprocka, Magdalena Nowak, Piotr Chuchra, Robert Śmigiel
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Metabolites
Subjects:
primary coenzyme Q10 deficiency-4
<i>COQ8A</i>-ataxia
coenzyme Q10
cerebellar ataxia
COQ8A
primary coenzyme Q10 deficiency
Online Access:https://www.mdpi.com/2218-1989/12/10/955

Internet

https://www.mdpi.com/2218-1989/12/10/955

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