The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

@article{Dorobek2015TheFO,
  title={The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.},
  author={Małgorzata Dorobek and Barbara Ryniewicz and Dagmara Kabzińska and Anna Fidziańska and Maria Styczyńska and Irena Hausmanowa-Petrusewicz},
  journal={Genetic testing and molecular biomarkers},
  year={2015},
  volume={19 11},
  pages={
          637-40
        }
}
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 estimate the frequency of the c.550delA mutation in Polish LGMD2A patients. METHODS… CONTINUE READING

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