A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation

SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. More recently, SQSTM1 mutations were identified in few families with frontotemporal dementia. We report a new family carrying SQSTM1 mutation and presenti...

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Detalles Bibliográficos
Autores principales: Boutoleau-Bretonnière, Claire, Camuzat, Agnès, Ber, Isabelle Le, Bouya-Ahmed, Kawtar, Guerreiro, Rita, Deruet, Anne-Laure, Evrard, Christelle, Bras, José, Lamy, Estelle, Auffray-Calvier, Elisabeth, Pallardy, Amandine, Hardy, John, Brice, Alexis, Derkinderen, Pascal, Vercelletto, Martine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337967/
https://www.ncbi.nlm.nih.gov/pubmed/25114083
http://dx.doi.org/10.3233/JAD-141512

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