Evidence of a third locus in X-linked recessive spastic paraplegia

被引：28

作者：

Steinmuller, R

LantiguaCruz, A

GarciaGarcia, R

Kostrzewa, M

Steinberger, D

Muller, U

机构：

[1] UNIV GIESSEN,INST HUMANGENET,D-35392 GIESSEN,GERMANY

[2] HIGHER INST MED SCI,NATL CTR MED GENET,HAVANA,CUBA

[3] HOSP JUAN MANUEL MARQUEZ,HAVANA,CUBA

来源：

HUMAN GENETICS | 1997年 / 100卷 / 02期

关键词：

D O I：

10.1007/s004390050507

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia.

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收藏

页码：287 / 289

页数：3

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