title: Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.
abstract: An unusual clinical history of a 23-year-old male proband with obstructive hypertrophic cardiomyopathy associated with a rare genotype is presented. Genetic analysis of the proband found evidence for two distinct mutations of the MYH7 gene (the gene coding for the beta-myosin heavy chain): 403Arg--> Trp in exon 13 and a novel mutation, 453Arg--> His, in exon 14. A heterozygous site mutation was identified in exon 13 in the proband's father but no mutation site was found in his mother. Thus, the novel mutation in exon 14 is a de novo mutation.
authors.affiliation: Generi Biotech s.r.o. and.
authors.forename: R
authors.initials: R
authors.lastname: Haluza
authors.forename: S
authors.initials: S
authors.lastname: Halouzková
authors.forename: M
authors.initials: M
authors.lastname: Buncek
authors.forename: O
authors.initials: O
authors.lastname: Smíd
authors.forename: J
authors.initials: J
authors.lastname: Kvasnicka