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Article

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

Muscle & nerve - 1 Nov 2018

Alrohaif Hadil, Pogoryelova Oksana, Al-Ajmi Abdullah, Aljeryan Lulwa A, Alrashidi Nuwayer H, Alefasi Sara A, Urtizberea Andoni, Lochmüller Hanns, Bastaki Laila

Abstract excerpt

INTRODUCTION: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle. METHODS: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients were further studied for disease-associated features. RESULTS: GNE myopathy was confirmed in 14 of...

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PMID: 30192030
DOI: 10.1002/mus.26337

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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