Odd MECP2-mutated Rett variant: long-term follow-up profile to age 25
2003 (English)In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 7, no 6, 417-421 p.Article in journal (Refereed) Published
A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.
Place, publisher, year, edition, pages
2003. Vol. 7, no 6, 417-421 p.
Rett syndrome; Odd variant; Long-term follow-up
IdentifiersURN: urn:nbn:se:umu:diva-68386DOI: 10.1016/j.ejpn.2003.09.003OAI: oai:DiVA.org:umu-68386DiVA: diva2:616694