Article
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.
Nature genetics - 1 Mar 2001
Guy J, Hendrich B, Holmes M, Martin J E, Bird A
Abstract excerpt
Rett syndrome (RTT) is an inherited neurodevelopmental disorder of females that occurs once in 10,000-15,000 births. Affected females develop normally for 6-18 months, but then lose voluntary movements, including speech and hand skills. Most RTT patients are heterozygous for mutations in the X-linked gene MECP2 (refs. 3-12), encoding a protein that binds to methylated sites in genomic DNA and facilitates gene...
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