Article

A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report

Cardiovascular Ultrasound 01/2010; DOI:http://www.doaj.org/doaj?func=openurl&genre=article&issn=14767120&date=2010&volume=8&issue=1&spage=9
Source: DOAJ

ABSTRACT Abstract

We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3.

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Keywords

cardiac conduction abnormalities
 
Genetic screening
 
hot spot
 
idiopathic dilated cardiomyopathy
 
strong family history
 
sudden cardiac death