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Article

Nationwide patient registry for GNE myopathy in Japan.

Orphanet journal of rare diseases - 11 Oct 2014

Mori-Yoshimura Madoka, Hayashi Yukiko K, Yonemoto Naohiro, Nakamura Harumasa, Murata Miho, Takeda Shin'ichi, Nishino Ichizo, Kimura En

Abstract excerpt

BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and (2) gain further insight into the disease for the purpose of...

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Source

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Identifiers

PMID: 25303967
DOI: 10.1186/s13023-014-0150-4
PMCID: PMC4203883

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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