Article
Facioscapulohumeral muscular dystrophy in the Dutch population.
Muscle & nerve. Supplement - 1 Jan 1995
Padberg G W, Frants R R, Brouwer O F, Wijmenga C, Bakker E, Sandkuijl L A
Abstract excerpt
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....
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