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PMID:7898523
| Citation |
Watkins, H, McKenna, WJ, Thierfelder, L, Suk, HJ, Anan, R, O'Donoghue, A, Spirito, P, Matsumori, A, Moravec, CS and Seidman, JG (1995) Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N. Engl. J. Med. 332:1058-64 |
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| Abstract |
Familial hypertrophic cardiomyopathy can be caused by mutations in the genes for beta cardiac myosin heavy chain, alpha-tropomyosin, or cardiac troponin T. It is not known how often the disease is caused by mutations in the tropomyosin and troponin genes, and the associated clinical phenotypes have not been carefully studied. |
| Links |
PubMed Online version:10.1056/NEJM199504203321603 |
| Keywords |
Adolescent; Adult; Biological Markers; Cardiomyopathy, Hypertrophic/genetics; Genetic Linkage; Humans; Lod Score; Mutation; Myosins/genetics; Phenotype; Polymorphism, Genetic; Tropomyosin/genetics; Troponin/genetics; Troponin T |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005861: troponin complex |
ECO:0000315: |
C |
Figure 3 shows compared with patients with β cardiac myosin heavy-chain mutations, patients with cardiac troponin T mutations had a higher incidence of death before the age of 30 years. Table 3 shows each cardiac troponin T mutation produced an increase in the maximal thickness of the left ventricular wall. |
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See also
References
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