par Dan, Bernard 
;Pelc, Karine ;Chéron, Guy
Référence Neurochemistry of Metabolic Diseases, Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease, Nova Science Publishers, New York, page (71-82)
Publication Publié, 2013
;Pelc, Karine ;Chéron, Guy Référence Neurochemistry of Metabolic Diseases, Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease, Nova Science Publishers, New York, page (71-82)
Publication Publié, 2013
Partie d'ouvrage collectif
| Résumé : | Rett syndrome is characterized by early neurological regression that severely affects motor, cognitive and communication skills, leading to microcephaly, a delay in acquiring new skills, absence of speech, emergence of autistic features, loss of purposeful manipulation skills, replaced by stereotyped hand movements, other motor abnormalities including abnormal muscle tone, ataxia and apraxia, and often a seizure disorder. It is a monogenic X-linked dominant disorder due to mutations in MECP2, that encodes the methyl-CpG binding protein MeCP2. There are several mouse models either based on conditional knocking out of the MeCp2 gene or on a truncating mutation. Perspectives in altering gene expression are discussed alongside with perspectives in clinical management. © 2012 Nova Science Publishers, Inc. All rights reserved. |
