A TRPV4 Mutation Caused Charcot-Marie-Tooth Disease Type 2C with Scapuloperoneal Muscular Atrophy Overlap Syndrome and Scapuloperoneal Spinal Muscular Atrophy in One Family: a Case Report and Literature Review
BMC Neurology（2023）
关键词
CMT2C,p.R316C mutation,SPSMA,Sural nerve biopsy,TRPV4
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要