Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.

Dandan TanLin GeYanbin FanXingzhi ChangShuang WangCuijie WeiJuan DingAijie LiuShuo WangXueying LiKai GaoHaipo YangChengli QueZhen HuangChunde LiYing ZhuBing MaoBo JinYing HuaXiaoli ZhangBingbing ZhangWenhua ZhuCheng ZhangYanjuan WangYun YuanYuwu JiangAnne RutkowskiCarsten G BönnemannXiru WuHui Xiong

Published in: Orphanet journal of rare diseases (2021)

This study provides better understandings of natural history and genotype-phenotype correlations in LAMA2-related muscular dystrophy, and supports therapeutic targets for future researches.

Keyphrases

muscular dystrophy
gene expression
genome wide
dna methylation
current status
copy number