A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.
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ABSTRACT:
SUBMITTER: Botto N
PROVIDER: S-EPMC2859370 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
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A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report.
Botto Nicoletta N Vittorini Simona S Colombo Maria Giovanna MG Biagini Andrea A Paradossi Umberto U Aquaro Giovanni G Andreassi Maria Grazia MG
Cardiovascular ultrasound 20100322
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. ...[more]
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