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Article

[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 1 Aug 2011

Lu Xiang-hui, Pu Chuan-qiang, Shi Qiang, Luo Wen-jing, Li Ke

Abstract excerpt

OBJECTIVE: To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV). METHODS: Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations. RESULTS: All the patients...

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Source

Identifiers

PMID: 21868336

Genes

GNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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