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  • Title: Evidence of a third locus in X-linked recessive spastic paraplegia.
    Author: Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Müller U.
    Journal: Hum Genet; 1997 Aug; 100(2):287-9. PubMed ID: 9254866.
    Abstract:
    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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