Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A

J Clin Neuromuscul Dis. 2016 Dec;18(2):89-91. doi: 10.1097/CND.0000000000000129.


More than 300 mutations were identified in Calpainopathy (CAPN3) gene in limb-girdle muscular dystrophy type 2A (LGMD2A) patients. LGMD2A type is also known as Calpainopathy, which is characterized by selective atrophy and weakness of proximal limb muscles. We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle muscles. We sequenced all exonic and intronic regions of the CAPN3 gene and identified c.1699 G>A variant as a novel variant not previously described in other patients. In silico predictions indicate that this is probably a disease-causing mutation. Here, for the first time, we report this c.1699 G>A new variant in the CAPN3 gene that can be considered as a robust genetics factor causing LGMD2A disease.

Publication types

  • Case Reports

MeSH terms

  • Calpain / genetics*
  • Female
  • Homozygote
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Saudi Arabia
  • Siblings
  • Young Adult


  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain

Supplementary concepts

  • Limb-girdle muscular dystrophy type 2A