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Background
COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10) biosynthesis. Autosomal recessive COQ4‐associated CoQ10 deficiency leads to an early‐onset mitochondrial multi‐organ disorder.
Methods
In‐house exome and genome datasets (n = 14,303) were screened for patients with bi‐allelic variants in COQ4. Work‐up included clinical characterization and functional studies in...
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