A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

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-gener...

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Hlavní autoři: Meloni, Ilaria, Bruttini, Mirella, Longo, Ilaria, Mari, Francesca, Rizzolio, Flavio, D’Adamo, Patrizia, Denvriendt, Koenraad, Fryns, Jean-Pierre, Toniolo, Daniela, Renieri, Alessandra
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2000
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287900/
https://ncbi.nlm.nih.gov/pubmed/10986043
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