Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

BACKGROUND: We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, and...

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Detalles Bibliográficos
Autores principales: Melchionda, Laura, Fang, Mingyan, Wang, Hairong, Fugnanesi, Valeria, Morbin, Michela, Liu, Xuanzhu, Li, Wenyan, Ceccherini, Isabella, Farina, Laura, Savoiardo, Mario, D’Adamo, Pio, Zhang, Jianguo, Costa, Alfredo, Ravaglia, Sabrina, Ghezzi, Daniele, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654953/
https://www.ncbi.nlm.nih.gov/pubmed/23634874
http://dx.doi.org/10.1186/1750-1172-8-66

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654953/
https://www.ncbi.nlm.nih.gov/pubmed/23634874
http://dx.doi.org/10.1186/1750-1172-8-66

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