| Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25. | |
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MedLine Citation:
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PMID: 14623222 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Bengt Hagberg; Anna Erlandsson; Mårten Kyllerman; Gunillla Larsson |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 7 ISSN: 1090-3798 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2003 |
Date Detail:
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Created Date: 2003-11-18 Completed Date: 2004-02-03 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 417-21 Citation Subset: IM |
Affiliation:
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Department of Neuropediatrics, The Queen Silvia Children's Hospital, Göteborg University, Göteborg, Sweden. hagberg@pediat.gu.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Activities of Daily Living
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classification Adolescent Adult Apraxias / diagnosis, genetics Child Child, Preschool Chromosomal Proteins, Non-Histone* DNA Mutational Analysis DNA-Binding Proteins / genetics* Diagnosis, Differential Disease Progression Dysarthria / diagnosis, genetics Female Follow-Up Studies Genetic Variation / genetics* Humans Hyperkinesis / diagnosis, genetics Infant Methyl-CpG-Binding Protein 2 Neurologic Examination Repressor Proteins* Rett Syndrome / diagnosis, genetics* |
| Chemical | |
Reg. No./Substance:
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0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 0/Repressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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