Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

@article{Brodehl2016MutationsIF,
  title={Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.},
  author={Andreas Brodehl and Raechel Ann Ferrier and Sara Jane Hamilton and Steven C. Greenway and M. Brundler and Weiming Yu and William Thomas Gibson and M. L. Mckinnon and B. C Mcgillivray and Nanette A M Alvarez and Michael R Giuffre and Jeremy Schwartzentruber and Brenda Gerull},
  journal={Human mutation},
  year={2016},
  volume={37 3},
  pages={
          269-79
        }
}
Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early heart transplantation. Familial forms are mainly caused by mutations in sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an actin-cross-linking protein mainly expressed in heart and skeletal muscle, segregating… CONTINUE READING
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Citations

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