A Case of Limb Girdle Muscular Dystrophy Type 2A from India: Copy Number Variation Analysis using Targeted Amplicon Sequencing

Abstract

Limb Girdle Muscular Dystrophy-Type 2A (LGMD-2A) is an autosomal recessive disease caused due to mutation in the Calpain-3 (CAPN3) gene, leading to partial or total loss of protein. In India, LGMD-2A is the most prevalence form of the disease accounting for 47% of cases amongst the heterogeneous group. Here, we report a case of 26-year-old female, having difficulty in walking due to proximal muscle weakness since the age of 13 years and had elevated Creatine Phosphokinase (CPK) with abnormal muscle biopsy findings. She was considered for the targeted gene panel based diagnosis with the query of muscular dystrophy. A homozygous exon 17 to 24 deletion was detected in the CAPN3 gene located in the long arm of chromosome 15, which was consistent with the patient’s clinical reports of calpinopathy.

Keywords

• calpinopathy
• creatine phosphokinase
• muscular disease