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Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.

Rocio ToroAlexandra Pérez-SerraÒscar CampuzanoJavier Moncayo-ArlandiCatarina AllegueAnna IglesiasAlipio MangasRamon Brugada
Published in: PloS one (2016)
We report p.H243Tfr*64_BAG3 as a novel pathogenic variation responsible for familial dilated cardiomyopathy. This variation correlates with a more severe phenotype of the disease, mainly in younger individuals. Genetic analysis in families, even asymptomatic individuals, enables early identification of individuals at risk and allows implementation of preventive measures.
Keyphrases
  • early onset
  • healthcare
  • primary care
  • genome wide
  • copy number
  • quality improvement
  • gene expression
  • dna methylation