GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence and clinical description
Author(s): Dr Hadil Alrohaif MBBCh, MD Dr Oksana Pogoryelove MBBS, PhD Dr Abdullah Al‐Ajmi MD Lulwa A Aljeryan PhD Nuwayer H Alrashidi BSc Sara A Alefasi BSc Dr Andoni Urtizberea MD Hanns Lochmüller MD, FAAN Dr Laila Bastaki MD
Published: September 7, 2018
GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative quadriceps muscle sparing.
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.
GNE myopathy was confirmed in 14/37 patients (37.8%) that were 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 one patient, and ptosis, ophthalmoplegia and tongue wasting in another.
The scope of the p.M743T mutation now includes the Arabian Peninsula. Variations in age of onset, disease progression and distribution in patients harbouring the same mutation suggest the role of other genetic and environmental modifying factors.