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@ARTICLE{Balke:834882,
      author       = {Balke, Maryam and Lehmann, Helmar and Fink, Gereon Rudolf
                      and Wunderlich, Gilbert},
      title        = {30-jähriger {P}atient mit {V}. a. {M}arfan-{S}yndrom und
                      zunehmend beeinträchtigter {G}ehfähigkeit},
      journal      = {Deutsche medizinische Wochenschrift},
      volume       = {142},
      number       = {13},
      issn         = {1439-4413},
      address      = {Stuttgart},
      publisher    = {Thieme},
      reportid     = {FZJ-2017-04770},
      pages        = {982 - 985},
      year         = {2017},
      abstract     = {History A 30-year-old man presented with a history of
                      progressive muscle weakness, difficulty in concentrating,
                      and a slender habitus since early childhood. Marfan syndrome
                      was suspected since the age of 14.Examinations 13 years
                      later he was examined by Marfan experts and by genetic
                      testing and Marfan syndrome could not be confirmed. Further
                      neurological examination revealed the suspected diagnosis of
                      myotonic dystrophy type 1, which was confirmed by genetic
                      testing.Treatment and course Similar to Marfan syndrome,
                      myotonic dystrophy is a multisystemic disorder with the risk
                      of cardiac arrythmias. It is necessary to provide an
                      interdisciplinary care by neurologists, internists,
                      ophthalmologists, speech therapists, and
                      physiotherapists.Conclusion It is not enough to take the
                      habitus as the principle sign to diagnose Marfan syndrome.
                      Furthermore, it is essential to consider symptoms that are
                      not typical for Marfan syndrome, such as cognitive
                      deficiencies or progressive paresis.},
      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},
      UT           = {WOS:000406063800015},
      doi          = {10.1055/s-0043-106279},
      url          = {https://juser.fz-juelich.de/record/834882},
}