Nature Communications (Apr 2016)

A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation

  • Nathan Orr,
  • Rima Arnaout,
  • Lorne J. Gula,
  • Danna A. Spears,
  • Peter Leong-Sit,
  • Qiuju Li,
  • Wadea Tarhuni,
  • Sven Reischauer,
  • Vijay S. Chauhan,
  • Matthew Borkovich,
  • Shaheen Uppal,
  • Arnon Adler,
  • Shaun R. Coughlin,
  • Didier Y. R. Stainier,
  • Michael H. Gollob

DOI
https://doi.org/10.1038/ncomms11303
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 8

Abstract

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Here, Michael Gollob and colleagues perform a whole exome sequencing study to identify a mutation in the atrial-specific myosin light chain gene MYL4 in a small family with autosomal dominant familial atrial fibrillation. They also test the functionality of this MYL4mutation in zebrafish cardiac function and recapitulate disease-related phenotypes.