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Article

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.

Clinical neurology and neurosurgery - 1 Apr 2007

Chu Chun-Che, Kuo Hung-Chou, Yeh Tu-Hsueh, Ro Long-Sun, Chen Shyue-Ru, Huang Chin-Chang

Abstract excerpt

OBJECTIVES: Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. However, the correlation between GNE mutations and clinical features was not fully understood. PURPOSES: To report the correlation between the clinical features and genetic analysis of DMRV patients. PATIENTS AND METHODS: The...

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Source

Identifiers

PMID: 17098358
DOI: 10.1016/j.clineuro.2006.09.008

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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