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. 1996 Nov;76(5):451–452. doi: 10.1136/hrt.76.5.451

A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy.

G Cuda 1, N Perrotti 1, F Perticone 1, P L Mattioli 1
PMCID: PMC484582  PMID: 8944596

Abstract

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.

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Selected References

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