COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the pathogenic role of this variant.
|Number of pages||1|
|Journal||Neurobiology of Aging|
|Publication status||Published - Sep 1 2016|
ASJC Scopus subject areas
- Developmental Biology
- Geriatrics and Gerontology
- Clinical Neurology