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

Autor: Chan, Sophelia HS, Ho, Ronnie SL, Khong, PL, Chung, Brian HY, Tsang, Mandy HY, Yu, Mullin HC, Yeung, Matthew CW, Chan, Angel OK, Fung, CW
Zdroj: In Neuromuscular Disorders January 2020 30(1):47-53
Databáze: ScienceDirect