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Article

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

American journal of medical genetics. Part A - 1 Mar 2004

Canki-Klain Nina, Milic Astrid, Kovac Biserka, Trlaja Anuska, Grgicevic Damir, Zurak Niko, Fardeau Michel, Leturcq France, Kaplan Jean-Claude, Urtizberea J Andoni, Politano Luisa, Piluso Giulio, Feingold Josue

Abstract excerpt

Mutations in the calpain 3 (CAPN3) gene are responsible for limb-girdle muscular dystrophy (LGMD) type 2A. We report five causal mutations: 550delA, DeltaFWSAL, R541W, Y357X and R49H found on 45/50 of alleles studied in 25 unrelated families from Croatia. The 550delA mutation was present on 76% of CAPN3 chromosomes that led us to screen general population for this mutation; 532 random blood samples from three...

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Source

Identifiers

PMID: 14981715
DOI: 10.1002/ajmg.a.20408

Genes

CAPN3

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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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