title: Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease.
abstract: 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.
authors.affiliation: Neurologische Klinik, Klinikum Grosshadern, München, Federal Republic of Germany.
authors.forename: T N
authors.initials: TN
authors.lastname: Witt
authors.forename: C G
authors.initials: CG
authors.lastname: Garner
authors.forename: D
authors.initials: D
authors.lastname: Pongratz
authors.forename: X
authors.initials: X
authors.lastname: Baur
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000235:genetics; D004576:Electromyography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000503:physiopathology; D012677:Sensation / Q000502:physiology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome