Facioscapulohumeral muscular dystrophy in the Dutch population.
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.
Padberg
G W
GW
Department of Neurology, University Hospital, Nijmegen, The Netherlands.
Frants
R R
RR
Brouwer
O F
OF
Wijmenga
C
C
Bakker
E
E
Sandkuijl
L A
LA
D017668:Age of Onset; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005145:Face; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D006811:Humerus; D008297:Male; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D009426:Netherlands; D012540:Scapula; D012727:Sex Characteristics