A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation

Tangier disease is an autosomal recessive disorder characterized by severe reduction in high-density lipoprotein cholesterol and peripheral lipid storage. We describe a family with c.5094C > A p.Tyr1698* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyel...

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Detalles Bibliográficos
Autores principales: Ceccanti, Marco, Cambieri, Chiara, Frasca, Vittorio, Onesti, Emanuela, Biasiotta, Antonella, Giordano, Carla, Bruno, Sabina M., Testino, Giancarlo, Lucarelli, Marco, Arca, Marcello, Inghilleri, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089975/
https://www.ncbi.nlm.nih.gov/pubmed/27853448
http://dx.doi.org/10.3389/fneur.2016.00185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089975/
https://www.ncbi.nlm.nih.gov/pubmed/27853448
http://dx.doi.org/10.3389/fneur.2016.00185

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