Whole exome sequencing (WES) was performed for 6 unrelated Iranian probands diagnosed with a kind of muscular disorder.
Mutations in CAPN3 gene were detected for these individuals.
One was a novel homozygous 6 bp deletion (c.795_800delCATTGA) in exon 5 of the CAPN3 gene.
This is the first limb-girdle muscular dystrophy type 2A (LGMD2A) study in Iranian population.