Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ronnie Sl Ho"'
Autor:
Anna KY Kwong, Yanmin Zhang, Ronnie SL Ho, Yuan Gao, Xu Ling, Mandy HY Tsang, HM Luk, Brian HY Chung, Carsten G Bönnemann, Asif Javed, Sophelia HS Chan
Publikováno v:
Neuromuscular Disorders. 33:371-381
Autor:
Mullin Hc Yu, Angel Ok Chan, Pek-Lan Khong, Ronnie Sl Ho, Mandy Hy Tsang, Brian Hy Chung, Matthew Cw Yeung, Cheuk-Wing Fung, Sophelia Hs Chan
Publikováno v:
Neuromuscular Disorders. 30:47-53
Megaconial congenital muscular dystrophy (CMD) is a rare form of congenital muscular dystrophy attributed to an autosomal recessive CHKB mutation. We report two unrelated Chinese girls with Megaconial CMD who harbored the same novel homozygous CHKB m