Article
Primary coenzyme Q10 deficiency due to COQ8A gene mutations.
Molecular genetics & genomic medicine - 1 Oct 2020
Zhang Linwei, Ashizawa Tetsuo, Peng Dantao
Abstract excerpt
BACKGROUND: Primary deficiency of coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive cerebellar ataxia with mitochondrial respiratory chain disfunction. The main clinical manifestation involves early-onset exercise intolerance, progressive cerebellar ataxia, and movement disorders. COQ8A gene mutations are responsible for this disease. Here, we provide clinical, laboratory, and genetic findings of a...
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