Literature DB >> 23912926

A patient with ventricular tachycardia due to a novel mutation of the lamin A/C gene: case presentation and mini review.

Georgios Kourgiannidis1, Aris Anastasakis, Konstantinos Lampropoulos, Themistoklis Iliopoulos.   

Abstract

Lamin A/C is a major constituent of the nuclear lamina, the proteinaceous meshwork underlying the inner nuclear membrane. Laminopathies are a group of diseases with heterogeneous clinical presentation. Lamin A/C mutations are a well-established cause of dilated cardiomyopathy. In our case, a novel mutation of lamin A/C presented in the typical form of cardiolaminopathy with ventricular tachycardia and mild myocardial dysfunction in an apparently healthy, middle-aged individual.

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Year:  2013        PMID: 23912926

Source DB:  PubMed          Journal:  Hellenic J Cardiol        ISSN: 1109-9666


  2 in total

1.  Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Authors:  Przemyslaw Chmielewski; Ewa Michalak; Ilona Kowalik; Maria Franaszczyk; Malgorzata Sobieszczanska-Malek; Grazyna Truszkowska; Malgorzata Stepien-Wojno; Elzbieta Katarzyna Biernacka; Bogna Foss-Nieradko; Michal Lewandowski; Artur Oreziak; Maria Bilinska; Mariusz Kusmierczyk; Frédérique Tesson; Jacek Grzybowski; Tomasz Zielinski; Rafal Ploski; Zofia T Bilinska
Journal:  J Clin Med       Date:  2020-05-12       Impact factor: 4.241

Review 2.  Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease.

Authors:  G Peretto; S Sala; S Benedetti; C Di Resta; L Gigli; M Ferrari; P Della Bella
Journal:  Nucleus       Date:  2018       Impact factor: 4.197

  2 in total

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