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Article

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.

Neuromuscular disorders : NMD - 1 Oct 2004

Chrobáková Tána, Hermanová Markéta, Kroupová Iva, Vondrácek Petr, Maríková Tat'ána, Mazanec Radim, Zámecník Josef, Stanek Jan, Havlová Miluse, Fajkusová Lenka

Abstract excerpt

Calpain3 (CAPN3, p94) is a muscle-specific nonlysosomal cysteine proteinase. Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy). These pathological changes in properties of calpain3 are caused by mutations in the calpain3 gene. The fact that...

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Source

Identifiers

PMID: 15351423
DOI: 10.1016/j.nmd.2004.05.005

Genes

CAPN3

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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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