Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.

Abstract

BACKGROUND Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy, also called distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (HIBM), is a rare, progressive autosomal recessive disorder caused by mutations in the GNE gene. Here, we examined the relationship between genotype and clinical phenotype… (More)
DOI: 10.1016/j.jns.2012.03.016

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@article{MoriYoshimura2012HeterozygousU2, title={Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.}, author={Madoka Mori-Yoshimura and Kazunari Monma and Naoki Suzuki and M. Aoki and Toshihide Kumamoto and Keiko Tanaka and Hiroyuki Tomimitsu and Satoshi Nakano and Masahiro Sonoo and Jun Shimizu and Kazuma Sugie and Harumasa Nakamura and Y Oya and Yukiko Hayashi and May Christine V. Malicdan and Satoru Noguchi and Miho Murata and Ichizo Nishino}, journal={Journal of the neurological sciences}, year={2012}, volume={318 1-2}, pages={100-5} }