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

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.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Alrohaif H,Pogoryelova O,Al-Ajmi A,Aljeryan LA,Alrashidi NH,Alefasi SA,Urtizberea A,Lochmüller H,Bastaki L

doi

10.1002/mus.26337

subject

Has Abstract

pub_date

2018-11-01 00:00:00

pages

700-707

issue

5

eissn

0148-639X

issn

1097-4598

journal_volume

58

pub_type

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