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Article

Limb-girdle muscular dystrophy 2A.

Handbook of clinical neurology - 1 Jan 2011

Gallardo Eduard, Saenz Amets, Illa Isabel

Abstract excerpt

Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the gene CAPN3 located in the chromosome region 15q15.1-q21.1. To date more than 300 mutations have been described. This gene encodes for a 94-kDa nonlysosomal calcium-dependent cysteine protease and its function in skeletal muscle is not fully understood. It seems that calpain-3 has an unusual zymogenic activation that involves, among...

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Source

Identifiers

PMID: 21496626
DOI: 10.1016/B978-0-08-045031-5.00006-2

Genes

CAPN3

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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