A novel nonsense variant in MT-CO3 causes MELAS syndrome

Neuromuscular Disorders - Tập 31 - Trang 558-565 - 2021
Wei Wang1, Yuan Sun2, Yan Lin1, Xuebi Xu3, Dandan Zhao1, Kunqian Ji1, Wei Li1, Yuying Zhao1, Chuanzhu Yan1,2,4,5
1Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road Jinan, Jinan, Shandong 250012 China
2Department of Neurology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, Shandong 266035 China
3Department of Neurology, First Affiliated Hospital of Wenzhou Medical University, Nanbaixiang Street, Ouhai District, Wenzhou 325000, China
4Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, Shandong 266035 China
5Brain Science Research Institute, Shandong University, Jinan, Shandong 250000, China

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