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

Sukanya BanerjeeBishan Dass RadotraManni Luthra-GuptasarmaManoj K Goyal

Published in: Orphanet journal of rare diseases (2024)

We confirmed 6 patients as LGMDR1 (with CAPN3 variants) from our cohort and calpain-3 protein expression was significantly reduced by immunoblot analysis as compared to control. Besides the previously known variants, our study found two novel variants in CAPN3 gene by Sanger sequencing-based approach indicating that genetic variants in LGMDR1 patients may help to understand the etiology of the disease and future prognostication.

Keyphrases

copy number
end stage renal disease
muscular dystrophy
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
gene expression