一个大家系中的X连锁隐性型单纯性痉挛性截瘫：与Xg无明显连锁关系。
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
作者信息
Zatz M, Penha-Serrano C, Otto P A
出版信息
J Med Genet. 1976 Jun;13(3):217-22. doi: 10.1136/jmg.13.3.217.
Abstract
A family with 24 males affected by an X-linked type of spastic paraplegia is reported. Twelve affected members were personally examined showing the pure form of the disease. Half of the affected males had many descendants, all normal. Linkage studies strongly suggest that this X-linked form of spastic paraplegia and Xg loci are not at a measurable distance on the X chromosome.
摘要
报道了一个有24名男性患X连锁型痉挛性截瘫的家系。对12名患病成员进行了亲自检查，显示为该疾病的纯合形式。一半的患病男性有许多后代，均正常。连锁研究强烈表明，这种X连锁型痉挛性截瘫与Xg位点在X染色体上的距离不可测量。
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