Article
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
American journal of human genetics - 1 Oct 2000
Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D'Adamo P, Denvriendt K, Fryns J P, Toniolo D, Renieri A
Abstract excerpt
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females. Only one male presenting an MECP2 mutation has been reported; he survived only to age 1 year, suggesting that mutations in MECP2 are male lethal. Here we report a three-generation family in which two affected males showed severe mental retardation and progressive spasticity, previously...
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