Article
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.
Journal of the neurological sciences - 15 Jul 2012
Mori-Yoshimura Madoka, Monma Kazunari, Suzuki Naoki, Aoki Masashi, Kumamoto Toshihide, Tanaka Keiko, Tomimitsu Hiroyuki, Nakano Satoshi, Sonoo Masahiro, Shimizu Jun, Sugie Kazuma, Nakamura Harumasa, Oya Yasushi, Hayashi Yukiko K, Malicdan May Christine V, Noguchi Satoru, Murata Miho, Nishino Ichizo
Abstract excerpt
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 exa...
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