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A novel Troponin I mutation associated with severe restrictive cardiomyopathy—a case report of a 27-year-old woman with fatigue

BACKGROUND: Restrictive cardiomyopathy is rare and heterogeneous in origin, clinical manifestation, and prognosis. Familial forms have, amongst others, been associated with mutations in the TNNI3 gene. We present a case of familial restrictive cardiomyopathy associated with a novel TNNI3 mutation in...

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Detalles Bibliográficos
Autores principales: Gerhardt, Teresa, Monserrat, Lorenzo, Landmesser, Ulf, Poller, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8843866/
https://www.ncbi.nlm.nih.gov/pubmed/35174310
http://dx.doi.org/10.1093/ehjcr/ytac053