Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature

The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous TNNI3 missense mutations have long been associated with autosomal dominant hypertrophic and restrictive cardiomyopathies, the role of TNNI3 null mutatio...

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Detalles Bibliográficos
Autores principales: Sorrentino, Ugo, Gabbiato, Ilaria, Canciani, Chiara, Calosci, Davide, Rigon, Chiara, Zuccarello, Daniela, Cassina, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048074/
https://www.ncbi.nlm.nih.gov/pubmed/36981019
http://dx.doi.org/10.3390/genes14030748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048074/
https://www.ncbi.nlm.nih.gov/pubmed/36981019
http://dx.doi.org/10.3390/genes14030748

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