A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

BACKGROUND: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. CASE PRESENTATION: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transpla...

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Detalles Bibliográficos
Autores principales: Pantou, Malena P., Gourzi, Polyxeni, Gkouziouta, Aggeliki, Armenis, Iakovos, Kaklamanis, Loukas, Zygouri, Christianna, Constantoulakis, Pantelis, Adamopoulos, Stamatis, Degiannis, Dimitrios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451262/
https://www.ncbi.nlm.nih.gov/pubmed/30953456
http://dx.doi.org/10.1186/s12881-019-0793-z

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