Muscle Weakness in an Adult With 22q11.2 Deletion Syndrome.
Cong-Cong Wang, Yang Zhou, Xiao-Li Li, Tong Du, Rui-Sheng Duan
Author Information
Cong-Cong Wang: Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong, China. ORCID
Yang Zhou: Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong, China.
Xiao-Li Li: Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong, China. ORCID
Tong Du: Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong, China.
Rui-Sheng Duan: Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, Shandong, China. ORCID
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.
