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

@inproceedings{Botto2010ANL,
  title={A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report},
  author={Nicoletta Botto and Simona Vittorini and Maria Giovanna Colombo and Andrea Biagini and Umberto Paradossi and Giovanni Aquaro and Maria Grazia Andreassi},
  booktitle={Cardiovascular ultrasound},
  year={2010}
}
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… CONTINUE READING