Autor: Di Wang
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Case Report: Myoclonic and tremulous movements associated with COQ8A-related coenzyme Q10 deficiency type 4
BackgroundPrimary coenzyme Q10 (CoQ10) deficiency is a rare, treatable mitochondrial disorder often caused by biallelic pathogenic variants in COQ8A gene (also known as ADCK3). It typically manifests as childhood-onset cerebellar ataxia with variable m…
