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

Article ID	Journal	Published Year	Pages	File Type
8280846	Journal of the Neurological Sciences	2012	6 Pages	PDF

Abstract

Homozygous KD/KD participants exhibited a more severe phenotype compared to heterozygous ED/KD participants.

Keywords

GNE myopathy Natural history Hereditary inclusion body myopathy Distal myopathy with rimmed vacuoles Questionnaire

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Ageing

Preview

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

Authors

Madoka Mori-Yoshimura, Kazunari Monma, Naoki Suzuki, Masashi Aoki, Toshihide Kumamoto, Keiko Tanaka, Hiroyuki Tomimitsu, Satoshi Nakano, Masahiro Sonoo, Jun Shimizu, Kazuma Sugie, Harumasa Nakamura, Yasushi Oya, Yukiko K. Hayashi,