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

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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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Authors and Affiliations

  1. Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, D-35392 Giessen, Germany Tel.: +49-641-99-41600; Fax: +49-641-99-41609; e-mail: Ulrich.Mueller@Humangenetik.Med.Uni-Giessen.de, , , , , , DE

    R. Steinmüller, M. Kostrzewa, D. Steinberger & U. Müller

  2. National Center of Medical Genetics, Higher Institute of Medical Science, Havanna, Cuba, , , , , , CU

    A. Lantigua-Cruz

  3. Hospital “Juan Manuel Márquez”, Havanna, Cuba, , , , , , CU

    R. Garcia-Garcia

Authors
  1. R. Steinmüller
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  2. A. Lantigua-Cruz
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  3. R. Garcia-Garcia
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  4. M. Kostrzewa
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  5. D. Steinberger
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  6. U. Müller
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Received: 7 March 1997 / Accepted: 14 April 1997

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Steinmüller, R., Lantigua-Cruz, A., Garcia-Garcia, R. et al. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet 100, 287–289 (1997). https://doi.org/10.1007/s004390050507

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  • DOI: https://doi.org/10.1007/s004390050507

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