FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY IN THE DUTCH POPULATION

被引：77

作者：

PADBERG, GW

FRANTS, RR

BROUWER, OF

WIJMENGA, C

BAKKER, E

SANDKUIJL, LA

机构：

[1] LEIDEN UNIV, MGC, DEPT HUMAN GENET, LEIDEN, NETHERLANDS

[2] LEIDEN UNIV HOSP, DEPT NEUROL, LEIDEN, NETHERLANDS

来源：

MUSCLE & NERVE | 1995年

关键词：

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; POPULATION STUDY; MUTATION FREQUENCY; GENETIC HETEROGENEITY;

D O I：

10.1002/mus.880181315

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 1995 John Wiley and Sons, Inc.

引用

页码：S81 / S84

页数：4

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