title: Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).
abstract: Hereditary motor-sensory neuropathy type III (HMSN III) (Dejerine-Sottas disease) is a severe demyelinating neuropathy that is traditionally considered autosomal recessive. We report a father and daughter diagnosed with HMSN III by clinical, electrophysiologic, and pathologic criteria, thus showing that it may be transmitted in an autosomal dominant fashion in selected families.
authors.affiliation: Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA.
authors.forename: D R
authors.initials: DR
authors.lastname: Lynch
authors.forename: H
authors.initials: H
authors.lastname: Hara
authors.forename: S W
authors.initials: SW
authors.lastname: Yum
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: S S
authors.initials: SS
authors.lastname: Scherer
authors.forename: S J
authors.initials: SJ
authors.lastname: Bird
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
mesh_terms: D000293:Adolescent; D004594:Electrophysiology; D005260:Female; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree