Article
The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.
Genetic testing and molecular biomarkers - 1 Nov 2015
Dorobek Małgorzata, Ryniewicz Barbara, Kabzińska Dagmara, Fidziańska Anna, Styczyńska Maria, Hausmanowa-Petrusewicz Irena
Abstract excerpt
BACKGROUND: Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD. The c.550delA mutation in the CANP3 (calcium activated neutral protease 3) gene is the most commonly reported mutation in LGMD2A. Prevalence of this mutation in the Polish population has not been previously investigated. The aim of this study was to identify and...
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