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Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
Author(s) -
Liewluck Teerin,
PhoIam Theeraphong,
Limwongse Chanin,
Thongnoppakhun Wanna,
Boonyapisit Kanokwan,
Raksadawan Natte,
Murayama Kumiko,
Hayashi Yukiko K.,
Nishino Ichizo,
Sangruchi Tumtip
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20583
Subject(s) - myopathy , mutation , compound heterozygosity , gene , genetics , allele , medicine , vacuole , biology , pathology , microbiology and biotechnology , cytoplasm
Distal myopathy with rimmed vacuoles (DMRV) is an early‐adult‐onset, distal myopathy caused by a mutation of the UDP‐ N ‐acetylglucosamine 2 epimerase/ N ‐acetylmannosamine kinase ( GNE ) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). All patients shared p.V696M in one allele. Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with DMRV. Muscle Nerve, 2006