A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.

Ying LiXueliang QiWei ZhangLiqun FengYun Yuan

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

Keyphrases

case report
late onset
early onset
genome wide
copy number
genome wide identification
muscular dystrophy
dna methylation
drug induced
genome wide analysis