[Familial hypertrophic cardiomyopathy--a case report].
Genetic profile od four-generation family with hypertrophic cardiomyopathy is presented. The alterations in the MYH7 gene sequences were identified. Genetic background of familial hypertrophic cardiomyopathy is reviewed and discussed.
Domal-Kwiatkowska
Dorota
D
Katedra i Zakład Biochemii, Wydział Farmaceutyczny, Slaska Akademia Medyczna, Katowice.
Glanowska
Grazyna
G
Smolik
Sławomir
S
Wilczewski
Przemysław
P
Mazurek
Urszula
U
Nowalany-Kozielska
Ewa
E
Fudal
Marcin
M
Wodniecki
Jan
J
D000328:Adult; D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D024723:Ventricular Myosins / Q000235:genetics*
D024723:Ventricular Myosins