Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.

Huahua ZhongYiming ZhengZhe ZhaoPengfei LinJianying XiWenhua ZhuJie LinJun LuMeng YuWei ZhangHe LvChuanzhu YanJing HuZhaoxia WangJiahong LuChongbo ZhaoYun YuanSu-Shan Luo

Published in: Journal of medical genetics (2020)

This study confirmed two hotspots and LGMDR1-related CAPN3 variants, highlighting the advantages in using a data-based comprehensive analysis to achieve a genetic landscape for patients with LGMDR1.

Keyphrases

muscular dystrophy
copy number
randomized controlled trial
electronic health record
gene expression
study protocol
duchenne muscular dystrophy
genome wide
machine learning
dna methylation
deep learning
data analysis