The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

@article{Schara2008ThePA,
  title={The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.},
  author={Ulrike Schara and Wolfram Kress and Carsten G B{\"o}nnemann and Nico Breitbach-Faller and Christoph G. Korenke and Gudrun Schreiber and Mechthild Stoetter and A. Lopez Ferreiro and Maja von der Hagen},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={2008},
  volume={12 3},
  pages={224-30}
}
The selenoprotein N1-related myopathies comprise rigid spine muscular dystrophy, the "classical" form of multiminicore disease, a desmin-related myopathy with Mallory body like inclusions and a form of congenital fiber-type disproportion. To define the phenotype and long-term clinical course in juvenile Selenoprotein N1-related myopathies 11 juvenile… CONTINUE READING