title: Facioscapulohumeral muscular dystrophy in the Dutch population.
abstract: Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. A mutation frequency of 9.6% was calculated. Mental retardation and severe retinal vasculopathy were reported in low frequencies (1%). Early onset was seen more frequently in sporadic cases. Chromosome 4 linkage appeared excluded in 3 of 22 autosomal-dominant families. The clinical pictures in the linked and nonlinked families were identical.
authors.affiliation: From the Department of Neurology, University Hospital, Nijmegen, The Netherlands.
authors.forename: G W
authors.initials: GW
authors.lastname: Padberg
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
authors.forename: C
authors.initials: C
authors.lastname: Wijmenga
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
mesh_terms: D002894:Chromosomes, Human, Pair 4; D008040:Genetic Linkage; D006801:Humans; D009030:Mosaicism; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics; D009426:Netherlands