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@ARTICLE{Wunderlich:857100,
      author       = {Wunderlich, G. and Brunn, A. and Daimagüler, H.-S. and
                      Bozoglu, T. and Fink, G. R. and Lehmann, H. C. and Weis, J.
                      and Cirak, S.},
      title        = {{L}ong term history of a congenital core-rod myopathy with
                      compound heterozygous mutations in the {N}ebulin gene},
      journal      = {Acta myologica},
      volume       = {37},
      number       = {2},
      issn         = {1128-2460},
      address      = {Ospedaletto (PI)},
      publisher    = {Pacini},
      reportid     = {FZJ-2018-06354},
      pages        = {121 - 127},
      year         = {2018},
      abstract     = {Mutations in the Nebulin gene (NEB) may cause core-rod
                      myopathy. The large size of the gene so far prevented
                      inclusion of its routine analysis by didesoxy resequencing
                      methodology in the diagnostic regime for muscular dystrophy
                      cases. Here we report a 54-year-old female with a rare
                      histological myopathy presentation of co-occurring cores and
                      rods. The patient reported early childhood onset weakness.
                      Muscle-MRI showed mainly proximal muscle involvement. We
                      identified two compound heterozygous non-sense mutations in
                      NEB (c.19653G > A, p.W6551* exon 127 and c.25441C > T,
                      p.R8481* exon 182) using a comprehensive next generation
                      sequencing (NGS)-based approach named Mendeliome Sequencing.
                      The p.W6551* mutation has not been reported elsewhere. Early
                      diagnosis by NGS shall be chased since even a scoliosis
                      surgery at the age of 18 years had failed to initiate a
                      neurological workup. Rather, cosmetic surgery for facial
                      weakness had been performed recently, albeit with an
                      unsatisfactory outcome},
      cin          = {INM-3},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-3-20090406},
      pnm          = {572 - (Dys-)function and Plasticity (POF3-572)},
      pid          = {G:(DE-HGF)POF3-572},
      typ          = {PUB:(DE-HGF)16},
      url          = {https://juser.fz-juelich.de/record/857100},
}