Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.

ABSTRACT:

Background

Limb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 (CAPN3) gene. As clinical and pathological features may overlap with other types of LGMD, therefore definite molecular diagnosis is required to understand the progression of this debilitating disease. This study aims to identify novel variants of CAPN3 gene in LGMDR1 patients.

Results

Thirty-four patients with clinical and histopathological features suggestive of LGMD were studied. The muscle biopsy samples were evaluated using Enzyme histochemistry, Immunohistochemistry, followed by Western Blotting and Sanger sequencing. Out of 34 LGMD cases, 13 patients were diagnosed as LGMDR1 by immunoblot analysis, demonstrating reduced or absent ca

SUBMITTER: Banerjee S 

PROVIDER: S-EPMC10983654 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature