RT Journal Article
SR Electronic
T1 A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy.
JF Heart
JO Heart
FD BMJ Publishing Group Ltd and British Cardiovascular Society
SP 451
OP 452
DO 10.1136/hrt.76.5.451
VO 76
IS 5
A1 Cuda, G.
A1 Perrotti, N.
A1 Perticone, F.
A1 Mattioli, P. L.
YR 1996
UL http://heart.bmj.com/content/76/5/451.abstract
AB A previously undescribed de novo insertion-deletion mutation in the beta cardiac myosin heavy chain gene was found in a kindred with familial hypertrophic cardiomyopathy. In the mutated allele there is an inserted-deleted guanine at nucleotides 8823 and 8850 of the beta myosin heavy chain gene, resulting in a dramatic change of the amino acid sequence (AA 395-404). such a mutation, detected in the proband and in his son but not in the proband's parents, is likely to produce major impairment of myosin function.