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

• Główni autorzy: Malena P. Pantou (Autor), Polyxeni Gourzi (Autor), Aggeliki Gkouziouta (Autor), Iakovos Armenis (Autor), Loukas Kaklamanis (Autor), Christianna Zygouri (Autor), Pantelis Constantoulakis (Autor), Stamatis Adamopoulos (Autor), Dimitrios Degiannis (Autor)
• Format: Książka
• Wydane: BMC, 2019-04-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...