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Facioscapulohumeral muscular dystrophy in the dutch population
Author(s) -
Padberg G. W.,
Frants R. R.,
Brouwer O. F.,
Wijmenga C.,
Bakker E.,
Sandkuijl L. A.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181315
Subject(s) - facioscapulohumeral muscular dystrophy , population , genetics , muscular dystrophy , medicine , linkage (software) , pediatrics , biology , gene , environmental health
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 autosomaldominant families. The clinical pictures in the linked and nonlinked families were identical. © 1995 John Wiley & Sons, Inc.