Muscle Weakness in an Adult With 22q11.2 Deletion Syndrome

This case report provides the first evidence that coenzyme Q10 may improve muscle weakness in patients with 22q11.2DS. The patient's genetic copy number deletion mutation region mainly contains COMT, PRODH functional genes related with mitochondria dynamics. The level of L-arginine was significantly increased after treatment by coenzyme Q10 in serum.