Padberg G W, Frants R R, Brouwer O F, Wijmenga C, Bakker E, Sandkuijl L A
From the Department of Neurology, University Hospital, Nijmegen, The Netherlands.
Muscle Nerve Suppl. 1995(2):S81-4.
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.
将荷兰某省一项先前关于面肩肱型肌营养不良（FSHD）的研究数据推算至整个荷兰人口，结果表明目前已几乎全面掌握了所有有症状的家族情况。在139个家族中，97个呈现显性遗传，6个符合生殖系嵌合模式，36个家族为散发病例。计算得出的突变频率为9.6%。智力发育迟缓及严重视网膜血管病变的报告频率较低（1%）。散发病例中早发型更为常见。在22个常染色体显性家族中的3个家族里，排除了与4号染色体的连锁关系。连锁家族和非连锁家族的临床表现相同。
