Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants.

Zhiying XieChengyue SunChang LiuZhihao XieLuhua WeiJiaxi YuChen LingXuejun GuoYilin LiuMeng YuYinglin LengLingchao MengYunchuang SunJianwen DengSuzanne M LealIsabelle SchrauwenZhaoxia WangYun Yuan

Published in: Journal of neurology (2022)

Our study first highlights the variable phenotypic expressivity of deep-intronic DMD variants and demonstrates a new class of deep-intronic DMD variants, i.e., pure-intronic SVs involving other protein-coding genes.

Keyphrases

copy number
duchenne muscular dystrophy
genome wide
muscular dystrophy
high resolution
small molecule
amino acid
binding protein
genome wide identification