Article
Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population.
Biochemical genetics - 1 Dec 2005
Kalemi Theodora, Efthimiadis Georgios, Zioutas Dimitrios, Lambropoulos Alexandros, Mitakidou Anastasia, Giannakoulas Georgios, Vassilikos Vassilios, Karvounis Haralambos, Kotsis Alexandros, Parharidis Georgios, Louridas Georgios
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is a genetically transmitted cardiac disease characterized by unexplained myocardial hypertrophy and diverse clinical spectrum. Currently, more than 250 HCM-related mutations in 10 genes encoding contractile sarcomeric proteins have been identified. Phospholamban (PLN) is a modest modulator of intracellular Ca2+ homeostasis and may be a candidate gene responsible for...
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