The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

@article{Brodehl2017TheN,
  title={The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.},
  author={Andreas Brodehl and Anna Gaertner-Rommel and Baerbel Klauke and Simon Andre Grewe and Ilona Schirmer and Andreas Peterschroeder and Lothar Faber and Matthias Vorgerd and Jan F. Gummert and Dario Anselmetti and Uwe Schulz and Lech Paluszkiewicz and Hendrik Milting},
  journal={Human mutation},
  year={2017},
  volume={38 8},
  pages={
          947-952
        }
}
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes αB-crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and… CONTINUE READING
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