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

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 prevalen...

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Detalles Bibliográficos
Autores principales: Botto, Nicoletta, Vittorini, Simona, Colombo, Maria Giovanna, Biagini, Andrea, Paradossi, Umberto, Aquaro, Giovanni, Andreassi, Maria Grazia
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859370/
https://www.ncbi.nlm.nih.gov/pubmed/20307303
http://dx.doi.org/10.1186/1476-7120-8-9
Descripción
Sumario: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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