Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein

Abstrakt

DNA samples of 153 patients with hypertrophic cardiomyopathy were analyzed for mutation in exons 21 and 22 of the MYH7 gene. De novo structure prediction of mutant and wild type peptides spanning the 769 - 7888 amino acids region of the myosin-7 protein was performed.

Klíčová slova

• MYOSIN HEAVY-CHAIN
• MISSENSE MUTATION
• GENE-MUTATIONS
• INHERITED CARDIOMYOPATHIES
• PREVALENCE
• PROGNOSIS
• FAMILIES