The DOI matches its OpenAlex record; 25 of the 25 references it cites were found in a registry or an index.
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations
Open accessAbstract
Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired filling of the ventricles with reduced volume in the presence of normal or near normal wall thickness and systolic function. The disease may be associated with systemic disease but is most often idiopathic. We recognized a large family in which individuals were affected by either idiopathic RCM or hypertrophic cardiomyopathy (HCM). Linkage analysis to selected sarcomeric contractile protein genes identified cardiac troponin I (TNNI3) as the likely disease gene. Subsequent mutation analysis revealed a novel missense mutation, which cosegregated with the disease in the family (lod score: 4.8). To determine if idiopathic RCM is part of the clinical expression of TNNI3 mutations, genetic investigations of the gene were performed in an additional nine unrelated RCM patients with restrictive filling patterns, bi-atrial dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in six of these nine RCM patients. Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene. This article was published online in advance of the print edition. The date of publication is available from the JCI website, http://www.jci.org.
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Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
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Animal Models of Heart Failure: A Scientific Statement From the American Heart Association
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Lee, T. M., Hsu, D. T., Kantor, P., Towbin, J. A., Ware, S. M., Colan, S. D., Chung, W. K., Jefferies, J. L., Rossano, J. W., Castleberry, C. D., et al. (2017) · Circulation Research · doi:10.1161/circresaha.116.309386 · Cited by 312
Parrotta, E. I., Lucchino, V., Scaramuzzino, L., Scalise, S., & Cuda, G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21124354 · Cited by 88
Metadata
- Authors
- Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R. T., Gimeno, J. R., Elliot, P. M., & McKenna, W. J.
- Venue
- Journal of Clinical Investigation
- Publisher
- American Society for Clinical Investigation
- Published
- 2003-01-15
- Volume
- 111
- Issue
- 2
- Pages
- 209-216
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2089575045
- Cited by
- 313
- References
- 25
- FWCI
- 8.80
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R. T., Gimeno, J. R., Elliot, P. M., & McKenna, W. J. (2003). Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. Journal of Clinical Investigation. https://doi.org/10.1172/jci16336
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