Biochemical Genetics, Vol. 43, Nos. 11/12, December 2005 ( C  2005) DOI: 10.1007/s10528-005-9121-8 Note Phospholamban Gene Mutations Are Not Associated with Hypertrophic Cardiomyopathy in a Northern Greek Population Theodora Kalemi, 1 Georgios Efthimiadis, 2 Dimitrios Zioutas, 2 Alexandros Lambropoulos, 1 Anastasia Mitakidou, 2 Georgios Giannakoulas, 2 Vassilios Vassilikos, 2 Haralambos Karvounis, 2,3 Alexandros Kotsis, 1 Georgios Parharidis, 2 and Georgios Louridas 2 Received 21 March 2005—Final 18 May 2005 Hypertrophic cardiomyopathy (HCM) is a genetically transmitted cardiac dis- ease 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 Ca 2+ homeostasis and may be a candidate gene responsible for cardiomyopathy. In this study 53 consecutive patients with HCM, coming from Northern Greece, were screened for mutations of PLN gene. The patients were evaluated by clinical history, physical examination, electrocar- diogram and echocardiography. All PCR products were analyzed for mutation by both restriction analysis and sequencing. The systematic mutation screening did not reveal any mutation in exons 1 and 2 or in the promoter region of phospholam- ban gene. Additionally, no polymorphisms were detected in all patients. Therefore, PLN gene mutations were not found to be associated with HCM in a Northern Greece population. KEY WORDS: phospholamban gene; hypertrophic cardiomyopathy; mutation; DNA-sequencing. 1 Department of Biology and Genetics, Aristotle University of Thessaloniki, Thessaloniki, Greece. 2 First Department of Cardiology, Aristotle University of Thessaloniki, AHEPA Hospital, Stilp. Kiriakidi 1, 54636 Thessaloniki, Greece. 3 To whom correspondence should be addressed; e-mail: hkarvounis@hotmail.com. 637 0006-2928/05/1200-0637/0 C  2005 Springer Science+Business Media, Inc.