Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Yanbin FanDandan TanDanyu SongXu ZhangXingzhi ChangZhaoxia WangCheng ZhangSophelia Hoi-Shan ChanQixi WuLiwen WuShuang WangHui YanLin GeHaipo YangBing MaoCarsten BönnemannJingying LiuSuxia WangYun YuanXiru WuHong ZhangHui Xiong

Published in: Journal of medical genetics (2020)

Our detailed clinical and genetic analysis of 84 patients with LMNA-related muscular dystrophy expands clinical spectrum and broadens genetic variations caused by LMNA mutations. We identified 21 novel and 29 known LMNA mutations and found two frequent mutations. A correlation between the location of mutation and the clinical severity was observed. Preliminary data suggested that low-dose corticosteroid treatment may be effective.

Keyphrases

muscular dystrophy
low dose
genome wide
copy number
electronic health record
machine learning
big data
high intensity
drug induced