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

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 understa...

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Bibliographic Details
Main Authors: Sukanya Banerjee, Bishan Dass Radotra, Manni Luthra-Guptasarma, Manoj K Goyal
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Calpain-3
LGMDR1
Immunohistochemistry
Western blotting
Sanger sequencing
Online Access:https://doi.org/10.1186/s13023-024-03158-1

Internet

https://doi.org/10.1186/s13023-024-03158-1

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