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Article

Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.

Journal of clinical neuromuscular disease - 1 Dec 2010

Peddareddygari Leema Reddy, Surgan Victoria, Grewal Raji P

Abstract excerpt

Limb-girdle muscular dystrophy represents a clinically and genetically heterogeneous group of myopathies. Limb-girdle muscular dystrophy Type 2A, which is transmitted in an autosomal-recessive pattern, is caused by mutations in the calpain-3 (CAPN3) gene. A number of mutations have been reported in patients from throughout the world but not in the Asian-Indian population. We describe a genotype/phenotype analysis...

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Source

Identifiers

PMID: 21386772
DOI: 10.1097/CND.0b013e3181f3dbd3

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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