Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Fu...

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Detalles Bibliográficos
Autores principales: Bansagi, Boglarka, Phan, Vietxuan, Baker, Mark R., O'Sullivan, Julia, Jennings, Matthew J., Whittaker, Roger G., Müller, Juliane S., Duff, Jennifer, Griffin, Helen, Miller, James A.L., Gorman, Grainne S., Lochmüller, Hanns, Chinnery, Patrick F., Roos, Andreas, Swan, Laura E., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962916/
https://www.ncbi.nlm.nih.gov/pubmed/29720545
http://dx.doi.org/10.1212/WNL.0000000000005566

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