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Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation.

Mikael KoponenAnnukka MarjamaaAnnukka M TuiskulaMatti ViitasaloTerhi Nallinmaa-LuotoJaakko T LeinonenElisabeth WidenLauri ToivonenKimmo KontulaHeikki Swan
Published in: PloS one (2020)
Previously undiagnosed CPVT patients may be identified by well-conducted genealogical studies. The RYR2 P2328S mutation causes a potentially severe phenotype, but its expression is variable, thus calling for additional studies on modifying factors.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • poor prognosis
  • ejection fraction
  • chronic kidney disease
  • case control
  • peritoneal dialysis
  • long non coding rna