TY -的T1 facioscapulohumeral肌肉萎缩症的临床特征2 JF -神经学乔-神经病学SP - 1548 LP - 1554 - 10.1212 首页/ WNL。0 b013e3181f96175六世- 75 - 17 AU - J.C. de Greef盟R.J.L.F. Lemmers AU - p . Camano盟盟J.W.天- s Sacconi盟盟m·杜南B.G.M. van Engelen AU - s Kiuru-Enari盟G.W. Padberg盟A.L.罗莎AU - c . Desnuelle盟美国Spuler AU - m .线粒体盟S.L. Venance盟——水银血压计Frants AU -克里van der Maarel盟r·欧德Y1 - 2010/10/26 UR - //www.ez-admanager.com/content/75/17/1548.abstract N2 -目的:在大约5%的患者facioscapulohumeral肌肉萎缩症(FSH首页D),没有D4Z4重复观察到染色体4 q35上出现收缩。称为FSHD2患者,这类患者显示DNA甲基化和异染色质标记在D4Z4重复类似患者D4Z4收缩(FSHD1)。这种共性表明D4Z4染色质结构的变化结合FSHD1 FSHD2。我们研究的目的是批判性评估患者临床特征FSHD2为了建立这些患者是否表型相同FSHD1并建立的影响(epi)基因型的表型。本横断式研究方法:研究33例FSHD2来自27个家庭,描述的最大的群体。所有患者临床评估使用一个标准化的临床评价形式。基因型分析是由脉冲场凝胶电泳和PCR;D4Z4甲基化研究methylation-sensitive印迹分析。结果:FSHD2 FSHD1相同的临床表现。 Notable differences include a higher incidence (67%) of sporadic cases and the absence of gender differences in disease severity in FSHD2. Overall, average disease severity in FSHD2 was similar to that reported in FSHD1 and was not influenced by D4Z4 repeat size. In FSHD2, a small effect of the degree of hypomethylation on disease severity was observed. Conclusions: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. ER -