Publication | Open Access
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
35
Citations
23
References
1976
Year
Down SyndromeMendelian DisorderPure Spastic ParaplegiaX ChromosomeGeneticsAffected MalesGenetic EpidemiologyFragile X SpectrumPathologyX-linked Recessive TypeMedicineGenetic DisorderLinkage StudiesLarge PedigreeNeuropathologyNeuromuscular PathologyFragile X PremutationDevelopmental Delay
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.
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