@article{KoelbelRoosvanderVenetal.2020,
  author    = {Heike K{\"o}lbel and Andreas Roos and Peter F. M. van der Ven and Teresinha Evangelista and Kay Nolte and Katherine Johnson and Ana T{\"o}pf and Michael Wilson and Wolfram Kress and Albert Sickmann and Volker Straub and Laxmikanth Kollipara and Joachim Weis and Dieter O. F{\"u}rst and Ulrike Schara},
  title     = {First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC},
  journal   = {Human Mutation},
  volume    = {41},
  number    = {9},
  pages     = {1600 -- 1614},
  doi       = {10.1002/humu.24062},
  year      = {2020},
}