Megaconial congenital muscular dystrophy: same novel homozygous mutation in CHKB gene in two unrelated Chinese patients
Neuromuscular Disorders（2020）
Abstract
•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.
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Key words
Megaconial congenital muscular dystrophy,Megaconial CMD,CHKB,Muscle biopsy,Giant mitochondria
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