一个明显患有性连锁视神经萎缩的家族。
A family with apparently sex-linked optic atrophy.
作者信息
Went L N, De Vries-De Mol E C, Völker-Dieben H J
出版信息
J Med Genet. 1975 Mar;12(1):94-8. doi: 10.1136/jmg.12.1.94.
Abstract
A family is described in which a probable new form of sex-linked optic atrophy was found in eight individuals. Some additional neurological abnormalities were noted. Results of studies of the Xg blood group excluded close linkage between the optic atrophy and Xg genes. As a probable coincidence, Huntington's chorea was found in a side branch of the family.
摘要
本文描述了一个家族，在该家族的八名个体中发现了一种可能的新型性连锁视神经萎缩。还注意到一些其他神经异常情况。对Xg血型的研究结果排除了视神经萎缩与Xg基因之间的紧密连锁关系。作为一种可能的巧合，在该家族的一个旁支中发现了亨廷顿舞蹈病。
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本文引用的文献
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A sex-linked recessive form of spastic paraplegia.一种X连锁隐性形式的痉挛性截瘫。
Am J Hum Genet. 1962 Mar;14(1):83-94.
2
Two kindreds with a sex-linked recessive form of spastic paraplegia.两个患有X连锁隐性遗传性痉挛性截瘫的家族。
Birth Defects Orig Artic Ser. 1971 Feb;7(1):219-21.
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