Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

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• 来源
  《Brain 》 |2007年第6期| 1485-1496| 共12页
• 作者

  M. C. Walter; P. Reilich; A. Huebner; D. Fischer; R. Schr?der; M. Vorgerd; W. Kress; C. Born; B. G. Schoser; K. H. Krause; U. Klutzny; S. Bulst; J. R. Frey; and H. Lochmüller;

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• 作者单位

  Friedrich Baur Institute Department of Neurology and;

  Institute for Clinical Radiology Ludwig Maximilians University of Munich;

  Children's Hospital Technical University Dresden;

  Muscle center and ALS clinic Kantonspital St Gallen Switzerland;

  Center of Biochemistry University of Cologne;

  Department of Neurology Ruhr-University of Bochum;

  Institute for Human Genetics University of Würzburg Germany and;

  Hoffmann-La Roche and CNS Research Basel Switzerland;

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• 正文语种 eng
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