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Muscle Nerve. 2018 Nov;58(5):700-707. doi: 10.1002/mus.26337. Epub 2018 Oct 3.

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

Author information

1
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
2
Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.
3
Department of Neurology, Jahra Hospital, Jahra, Kuwait.
4
Centre Neuromusculaire, Filnemus, Hopital Marin, Hendaye, France.
5
Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Mathildenstrasse 1, Freiburg, 79160, Germany.
6
Centro Nacional de Análisis Genómico, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
7
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
8
Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.

Abstract

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 the 37 patients (37.8%) screened. All cases were caused by the p.M743T mutation. Age of onset and time from disease onset to loss of ambulation were variable. Both wasted and hypertrophied calf muscles were noted. Severely affected quadriceps were present in 1 patient, and ptosis, ophthalmoplegia, and tongue wasting in another.

DISCUSSION:

The scope of the p.M743T mutation now includes the Arabian Peninsula. Variations in age of onset, disease progression, and distribution in patients harboring the same mutation suggest the role of other genetic- and environment-modifying factors. Muscle Nerve 58: 700-707, 2018.

KEYWORDS:

Bedouins; GNE myopathy; distal myopathy; founder mutation; neuromuscular disorders; prevalence

PMID:
30192030
DOI:
10.1002/mus.26337
[Indexed for MEDLINE]

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