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Article

Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2005

Ro L-S, Lee-Chen G-J, Wu Y-R, Lee M, Hsu P-Y, Chen C-M

Abstract excerpt

BACKGROUND: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations have been found in patients with distal myopathy with rimmed vacuoles (DMRV). It is not clear how the same GNE gene mutations can result in different phenotypes in the same family with DMRV. METHODS: The clinical, neurophysiological, histopathological, and genetic characteristics of two patients with DMRV from a...

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Source

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Identifiers

PMID: 15834044
DOI: 10.1136/jnnp.2004.048876
PMCID: PMC1739643

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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Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.PMID 15834044Read ↗

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