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

• Hoofdauteurs: Malena P. Pantou (Auteur), Polyxeni Gourzi (Auteur), Aggeliki Gkouziouta (Auteur), Iakovos Armenis (Auteur), Loukas Kaklamanis (Auteur), Christianna Zygouri (Auteur), Pantelis Constantoulakis (Auteur), Stamatis Adamopoulos (Auteur), Dimitrios Degiannis (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2019-04-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract 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 t...