Megaconial congenital muscular dystrophy: same novel homozygous mutation in CHKB gene in two unrelated Chinese patients

Sophelia Hs Chan,Ronnie Sl Ho,PL Khong,Brian Hy Chung,Mandy Hy Tsang,Mullin Hc Yu, Matthew Cw Yeung,Angel Ok Chan,CW Fung

Neuromuscular Disorders（2020）

引用 7|浏览12

暂无评分

摘要

•Two Chinese children with same novel CHKB mutation have different presentation.•MDCMC, a rare multi-system disease, can have early mortality from cardiomyopathy.•MDCMC has selective muscle pattern involvement on MRI lower limb muscles.

查看译文

关键词

Megaconial congenital muscular dystrophy,Megaconial CMD,CHKB,Muscle biopsy,Giant mitochondria

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