Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation.
作者信息
Saylam Ezgi, Aravindhan Akilandeswari, Stefans Vikki, Veerapandiyan Aravindhan
机构信息
Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
Departments of Pediatrics and Physical Medicine and Rehabilitation, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR.
出版信息
J Clin Neuromuscul Dis. 2020 Jun;21(4):245-246. doi: 10.1097/CND.0000000000000286.
PMID:32453103
Abstract
摘要
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Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation.
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