OPEN Human genomics | 28 Sep 2016
D Monies, HN Alhindi, MA Almuhaizea, M Abouelhoda, AM Alazami, E Goljan, B Alyounes, D Jaroudi, A AlIssa, K Alabdulrahman, S Subhani, M El-Kalioby, T Faquih, SM Wakil, NA Altassan, BF Meyer and S Bohlega
Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes. Our main objective was to evaluate a neurological gene panel as a first-line diagnostic test for LGMD/myopathies.
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