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.
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The results of this study were presented in part at the 8th international congress of electromyography and related neurophysiology, Sorrento, Italy 1987
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Witt, T.N., Garner, C.G., Pongratz, D. et al. Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease. Eur Arch Psychiatr Neurol Sci 237, 230–236 (1988). https://doi.org/10.1007/BF00449912
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DOI: https://doi.org/10.1007/BF00449912