Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
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ABSTRACT:
SUBMITTER: Reddy HM
PROVIDER: S-EPMC5453499 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
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Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Reddy Hemakumar M HM Hamed Sherifa A SA Lek Monkol M Mitsuhashi Satomi S Estrella Elicia E Jones Michael D MD Mahoney Lane J LJ Duncan Anna R AR Cho Kyung-Ah KA Macarthur Daniel G DG Kunkel Louis M LM Kang Peter B PB
Muscle & nerve 20160824 4
<h4>Introduction</h4>The genetic causes of limb-girdle muscular dystrophy (LGMD) have been studied in numerous countries, but such investigations have been limited in Egypt.<h4>Methods</h4>A cohort of 30 families with suspected LGMD from Assiut, Egypt, was studied using immunohistochemistry, homozygosity mapping, Sanger sequencing, and whole exome sequencing.<h4>Results</h4>Six families were confirmed to have pathogenic mutations, 4 in SGCA and 2 in DMD. Of these, 3 families harbored a single no ...[more]
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