Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
US6063576A · kind A · utility
2Cited by
1References
33Claims
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Key dates
| Filing date | Jun 29, 1998 |
| Grant date | May 16, 2000 |
| Priority date | — |
| Expiry date | Jun 29, 2018 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
Two mutations in the human cardiac actin gene are disclosed which have been associated with idiopathic dilated cardiomyopathy (IDC) in two families. These mutations cosegregate with IDC in the two families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Analysis of the cardiac actin gene can be used to determine the presence in a patient of IDC resulting from mutations in this gene. Such analysis is useful in the diagnosis and prognosis of the disease in patients with mutations in this gene.
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