Article
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.
European journal of human genetics : EJHG - 1 Jan 2012
Kerr Bredford, Soto C Jessica, Saez Mauricio, Abrams Alexander, Walz Katherina, Young Juan I
Abstract excerpt
Rett syndrome (RTT) is a disorder that affects patients' ability to communicate, move and behave. RTT patients are characterized by impaired language, stereotypic behaviors, frequent seizures, ataxia and sleep disturbances, with the onset of symptoms occurring after a period of seemingly normal development. RTT is caused by mutations in methyl-CpG binding protein 2 (MECP2), an X-chromosome gene encoding for...
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