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Tale of two hearts: a TNNT2 hypertrophic cardiomyopathy case report

Hypertrophic cardiomyopathy (HCM) is a heritable cardiomyopathy that is predominantly caused by pathogenic mutations in sarcomeric proteins. Here we report two individuals, a mother and her daughter, both heterozygous carriers of the same HCM-causing mutation in cardiac Troponin T (TNNT2). Despite s...

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Detalles Bibliográficos
Autores principales: Pham, Justin H., Giudicessi, John R., Tweet, Marysia S., Boucher, Lauren, Newman, D. Brian, Geske, Jeffrey B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174446/
https://www.ncbi.nlm.nih.gov/pubmed/37180798
http://dx.doi.org/10.3389/fcvm.2023.1167256