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 - 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 - Dissemin

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Elsevier, Journal of the Neurological Sciences, 1-2(318), p. 100-105, 2012

DOI: 10.1016/j.jns.2012.03.016

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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

Journal article published in 2012 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 and other authors.

This paper was not found in any repository, but could be made available legally by the author.

This paper was not found in any repository, but could be made available legally by the author.

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