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Article

Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.

Journal of neurology - 1 Jul 2024

Yoshioka Wakako, Nakamura Harumasa, Oba Mari, Saito Yoshihiko, Nishino Ichizo, Mori-Yoshimura Madoka

Abstract excerpt

BACKGROUND: GNE myopathy is an ultra-rare autosomal recessive distal myopathy caused by pathogenic variants of the GNE gene, which encodes a key enzyme in sialic acid biosynthesis. The present study aimed to examine the long-term progression of GNE myopathy, genotype-phenotype correlations, and complications to provide useful information for predicting patient progression and designing clinical trials using a...

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Identifiers

PMID: 38691167
DOI: 10.1007/s00415-024-12396-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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