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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

✍ Scribed by 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; May Christine V. Malicdan; Satoru Noguchi; Miho Murata; Ichizo Nishino

Book ID: 119304472
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 254 KB
Volume: 318
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2012.03.016

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