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Article

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

Orphanet journal of rare diseases - 1 Apr 2024

Banerjee Sukanya, Radotra Bishan Dass, Luthra-Guptasarma Manni, Goyal Manoj K

Abstract excerpt

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...

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Source

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Identifiers

PMID: 38561828
DOI: 10.1186/s13023-024-03158-1
PMCID: PMC10983654

Genes

CAPN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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