A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.

doi:10.1093/europace/euy127

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Article

A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Dec 2018

Glöcklhofer Christina R, Steinfurt Johannes, Franke Gerlind, Hoppmann Anselm, Glantschnig Theresa, Perez-Feliz Stefanie, Alter Svenja, Fischer Judith, Brunner Michael, Rainer Peter P, Köttgen Anna, Bode Christoph, Odening Katja E

Abstract excerpt

Aims: Characterization of the cardiac phenotype associated with the novel LMNA nonsense mutation c.544C>T, p.Q182*, which we have identified in a large five-generation family. Methods and results: A family tree was constructed. Clinical data [arrhythmia, syncope, sudden cardiac death (SCD), New York Heart Association (NYHA) class] were collected from living and deceased family members. DNA of 23 living family...

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Identifiers

PMID: 29947763
DOI: 10.1093/europace/euy127

Genes

LMNA
SCD

Variants

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