PT  - JOURNAL ARTICLE
AU  - Cuda, G.
AU  - Perrotti, N.
AU  - Perticone, F.
AU  - Mattioli, P. L.
TI  - A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy.
AID  - 10.1136/hrt.76.5.451
DP  - 1996 Nov 01
TA  - Heart
PG  - 451--452
VI  - 76
IP  - 5
4099  - http://heart.bmj.com/content/76/5/451.short
4100  - http://heart.bmj.com/content/76/5/451.full
SO  - Heart1996 Nov 01; 76
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.