Genetic restrictive cardiomyopathy: causes and consequences
- The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM.
| Author: | Diana CimiottiORCiDGND, Heidi BuddeGND, Roua HassounGND, Kornelia JaquetGND |
|---|---|
| URN: | urn:nbn:de:hbz:294-80294 |
| DOI: | https://doi.org/10.3390/ijms22020558 |
| Parent Title (English): | International journal of molecular sciences |
| Subtitle (English): | an integrative approach |
| Publisher: | MDPI |
| Place of publication: | Basel |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2021/04/22 |
| Date of first Publication: | 2021/01/08 |
| Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
| Tag: | Open Access Fonds aggregation; calcium; cardiomyopathy; contractile dysfunction; gene expression; pediatric; restrictive cardiomyopathy; sarcomere |
| Volume: | 22 |
| Issue: | 2, Artikel 558 |
| First Page: | 558-1 |
| Last Page: | 558-26 |
| Note: | Article Processing Charge funded by the Open Access Publication Fund of Ruhr-Universität Bochum. |
| Institutes/Facilities: | Institut für Pharmakologie und Toxikologie, Abteilung für klinische Pharmakologie |
| Katholisches Klinikum Bochum, Molekulare und Experimentelle Kardiologie | |
| Dewey Decimal Classification: | Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit |
| open_access (DINI-Set): | open_access |
| faculties: | Medizinische Fakultät |
| Licence (English): |  Creative Commons - CC BY 4.0 - Attribution 4.0 International |
