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

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

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...

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Bibliographic Details
Main Authors: Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Medical Genetics
Subjects:
TNNI3
Restrictive cardiomyopathy
Autosomal recessive
Cardiac troponin I
Mutation
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-019-0793-z

Internet

http://link.springer.com/article/10.1186/s12881-019-0793-z

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