ISSN:
1433-8491
Keywords:
Emery-Dreifuss syndrome
;
Autosomal dominant inheritance
;
Single-fiber EMG
;
Fiber type-I atrophy
;
Spinal muscular atrophy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00449912
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