Literature DB >> 23270746

Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy.

Belinda Gray1, Laura Yeates, Caroline Medi, Jodie Ingles, Christopher Semsarian.   

Abstract

Entities:  

Keywords:  Cardiac troponin I; Genetics; Homozygous; Hypertrophic cardiomyopathy

Mesh：

Substances：

Year:  2012        PMID： 23270746     DOI： 10.1016/j.ijcard.2012.12.008

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  3 in total

1.  Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy.

Authors:  Antheia Kissopoulou; Cecilia Trinks; Anna Green; Jan-Erik Karlsson; Jon Jonasson; Cecilia Gunnarsson
Journal:  ESC Heart Fail       Date:  2018-04-16

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

Authors:  Malena P Pantou; Polyxeni Gourzi; Aggeliki Gkouziouta; Iakovos Armenis; Loukas Kaklamanis; Christianna Zygouri; Pantelis Constantoulakis; Stamatis Adamopoulos; Dimitrios Degiannis
Journal:  BMC Med Genet       Date:  2019-04-05       Impact factor: 2.103

3.  Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

Authors:  Yilu Wang; Zhimin Wang; Qi Yang; Yubao Zou; Hongju Zhang; Chaowu Yan; Xinxing Feng; Yi Chen; Yin Zhang; Jizheng Wang; Xianliang Zhou; Ferhaan Ahmad; Rutai Hui; Lei Song
Journal:  PLoS One       Date:  2013-06-28       Impact factor: 3.240
  3 in total

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