Summary
A family with six males affected by X-linked spastic paraplegia (McKusick No. 31290) is described. The disease was accompanied by mental retardation in all patients (severe in four cases with IQ of 40) and by absence of extensor pollicis longus (in four cases). The following X chromosome DNA probes were used in linkage studies: 782, RC8, 99-6, 754, OTC, L128, pDP34, p43-15, DX13, and St14. The mutation is closely linked to the loci DX13 (DXS15) and Stl4 (DXS52) (no recombinants in 11 meioses) and therefore localised to the telomeric region of the long arm of the human X chromosome.
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Kenwrick, S., Ionasescu, V., Ionasescu, G. et al. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 73, 264–266 (1986). https://doi.org/10.1007/BF00401241
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DOI: https://doi.org/10.1007/BF00401241