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Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease

  • Th. N. Witt
  • C. G. Garner
  • D. Pongratz
  • X. Baur
Article

Summary

The first German family with autosomal dominant Emery-Dreifuss syndrome (EDS) is described, with electrophysiologic and myopathologic results providing evidence of a primary neurogenic disease. According to classification of the scapulo peroneal syndrome without cardiomyopathy, we conclude that there are two variants of EDS: one myopathic, the other neurogenic in origin. Therefore, the term Emery-Dreifuss muscular dystrophy should be avoided. Instead, each case of EDS should be classified as myopathic or neurogenic with X chromosome recessive or autosomal dominant inheritance.

Key words

Emery-Dreifuss syndrome Autosomal dominant inheritance Single-fiber EMG Fiber type-I atrophy Spinal muscular atrophy 

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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • Th. N. Witt
    • 1
  • C. G. Garner
    • 1
  • D. Pongratz
    • 2
  • X. Baur
    • 3
  1. 1.Neurologische Klinik, Klinikum GroßhadernMünchen 70Germany
  2. 2.Friedrich Baur Stiftung, Medizinische Klinik InnenstadtMünchenGermany
  3. 3.Medizinische Klinik I, Klinikum Großhadern der Universität MünchenMünchenGermany

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