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Article

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

Journal of human genetics - 1 Apr 2011

Li Honghao, Chen Qi, Liu Fuchen, Zhang Xuemei, Liu Tao, Li Wei, Liu Shuping, Zhao Yuying, Wen Bing, Dai Tingjun, Lin Pengfei, Gong Yaoqin, Yan Chuanzhu

Abstract excerpt

Distal myopathy with rimmed vacuoles (DMRVs) is an autosomal recessive vacuolar myopathy that has been reported in different ethnic populations with the common mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. We presented the clinical, pathological and genetic characteristics of eight Chinese DMRV patients from six unrelated families. Six previously reported Chinese DMRV...

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Identifiers

PMID: 21307865
DOI: 10.1038/jhg.2011.15

Genes

GNE

Variants

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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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