Wieacker P, Wolff G, Wienker T F
Universitäts-Frauenklinik, Freiburg, Federal Republic of Germany.
Am J Med Genet. 1987 Sep;28(1):245-53. doi: 10.1002/ajmg.1320280137.
Linkage studies with RFLPs were performed in a large family in which the Wieacker-Wolff syndrome is segregating. In this new syndrome (McKusick, 1986, No. 31458) patients have congenital contractures, progressive neuropathic muscle atrophy, involving also some cranial nerves with oculomotor apraxia and dyspraxia of the face and tongue muscles, and mental retardation. This is an X-linked recessive syndrome. We found close linkage between the syndrome locus and the DNA segment DXYS1 (z = 3.225 at theta = 0.0) in proximal Xq.
我们在一个威克-沃尔夫综合征呈分离状态的大家庭中进行了限制性片段长度多态性（RFLP）连锁研究。在这种新综合征（麦库西克，1986年，编号31458）中，患者存在先天性挛缩、进行性神经性肌肉萎缩，还累及一些伴有动眼性失用症以及面部和舌肌运动障碍的颅神经，并有智力发育迟缓。这是一种X连锁隐性综合征。我们发现该综合征基因座与Xq近端的DNA片段DXYS1紧密连锁（在θ = 0.0时，z = 3.225）。
