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A novel c.563 T>G, p.L189R lamin A/C mutation in identical twins with dilated cardiomyopathy

  • Lee, Euijae (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital) ;
  • Park, Kyung-Taek (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital) ;
  • Kang, Jinwoo (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital) ;
  • Park, Hyunkyung (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital) ;
  • Park, Jin Joo (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital) ;
  • Oh, Il-Young (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital) ;
  • Yoon, Yeonyee E. (Division of Cardiology, Cardiovascular Center, Seoul National University Bundang Hospital)
  • Received : 2015.05.24
  • Accepted : 2015.08.06
  • Published : 2017.01.01

Abstract

Keywords

References

  1. Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011;57:1641-1649. https://doi.org/10.1016/j.jacc.2011.01.015
  2. Capell BC, Collins FS. Human laminopathies: nuclei gone genetically awry. Nat Rev Genet 2006;7:940-952. https://doi.org/10.1038/nrg1906
  3. Cattin ME, Muchir A, Bonne G. 'State-of-the-heart' of cardiac laminopathies. Curr Opin Cardiol 2013;28:297-304. https://doi.org/10.1097/HCO.0b013e32835f0c79
  4. Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008;52:1250-1260. https://doi.org/10.1016/j.jacc.2008.06.044
  5. van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers: a European cohort study. J Am Coll Cardiol 2012;59:493-500. https://doi.org/10.1016/j.jacc.2011.08.078

Cited by

  1. Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death vol.19, pp.1, 2019, https://doi.org/10.1186/s12872-019-01282-6