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Article

Genetics of GNE myopathy in the non-Jewish Persian population.

European journal of human genetics : EJHG - 1 Feb 2016

Haghighi Alireza, Nafissi Shahriar, Qurashi Abrar, Tan Zheng, Shamshiri Hosein, Nilipour Yalda, Haghighi Amirreza, Desnick Robert J, Kornreich Ruth

Abstract excerpt

GNE myopathy is an autosomal recessive adult-onset disorder characterized by progressive muscle atrophy and weakness, initially involving the distal muscles, while often sparing the quadriceps. It is caused by variants in the GNE gene that encodes a key bifunctional enzyme in the sialic acid biosynthetic pathway. We investigated the clinical and molecular characteristics of 18 non-Jewish Persian patients from 11...

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Distal Myopathies
Genetic Association Studies
Homozygote
Iran
Jews

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Multienzyme Complexes

Muscle, Skeletal

Polymorphism, Single Nucleotide

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Open in PubMed Open full text

Identifiers

PMID: 25966635
DOI: 10.1038/ejhg.2015.78
PMCID: PMC4717203

Genes

GNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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