title: Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy.
abstract: BACKGROUND
  Mutations in the gene of myosin binding protein C (MYBPC3) are currently considered the most frequent cause of hypertrophic cardiomyopathy (HCM).
  
  
  OBJECTIVE
  To assess the frequency of selected mutations in MYBPC3 in the Polish population of HCM patients.
  
  
  METHODS
  One hundred eighteen patients with HCM and 118 healthy, age and sex-matched controls were screened for the presence of 14 mutations of MYBPC3 using real time polymerase chain reaction.
  
  
  RESULTS
  Five different mutations were found in six patients in the HCM group whereas no mutations were present in the control group. In three cases the mutations were missense (Arg502Gln, Cys566Arg, Asn755Lys) and in three cases terminal (Gln425ter, Gln1061ter in two unrelated probands).
  
  
  CONCLUSIONS
  Mutations in MYBPC3 should be considered a frequent cause of HCM in Poland.
authors.affiliation: 2nd Chair and Department of Cardiology, University of Medical Sciences, Łódź, Poland. tomek_rudzinski@op.pl
authors.forename: Tomasz
authors.initials: T
authors.lastname: Rudziński
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Selmaj
authors.forename: Jarosław
authors.initials: J
authors.lastname: Drozdz
authors.forename: Maria
authors.initials: M
authors.lastname: Krzemińska-Pakuła
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D000099163:Myosin Binding Protein C