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Article

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.

Journal of the neurological sciences - 15 Jul 2015

Zhao Juan, Wang Zhaoxia, Hong Daojun, Lv He, Zhang Wei, Chen Juanjuan, Yuan Yun

Abstract excerpt

GNE myopathy is an autosomal recessive distal myopathy caused by biallelic mutation in the GNE gene. It shows great genetic heterogeneity among different ethnic groups. In this study, we summarized the mutational spectrum and clinical profiles in 35 unrelated GNE myopathy patients from mainland China. Molecular analysis revealed 16 novel (p.G47D, p.F66Y, p.E173A, p.Y186H, p.R246L, p.R263*, p.R306*, p.A366D,...

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Source

Identifiers

PMID: 25986339
DOI: 10.1016/j.jns.2015.04.028

Genes

GNE

Variants

Provenance

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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