Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Publication/Presentation Date
4-3-2024
Abstract
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast (
Volume
16
Issue
741
First Page
2841
Last Page
2841
ISSN
1946-6242
Published In/Presented At
Donkervoort, S., van de Locht, M., Ronchi, D., Reunert, J., McLean, C. A., Zaki, M., Orbach, R., de Winter, J. M., Conijn, S., Hoomoedt, D., Neto, O. L. A., Magri, F., Viaene, A. N., Foley, A. R., Gorokhova, S., Bolduc, V., Hu, Y., Acquaye, N., Napoli, L., Park, J. H., … Ottenheijm, C. A. C. (2024). Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine, 16(741), eadg2841. https://doi.org/10.1126/scitranslmed.adg2841
Disciplines
Education | Medical Education
PubMedID
38569017
Department(s)
Department of Education
Document Type
Article
COinS