Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the periphe...

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Detalles Bibliográficos
Autores principales: Fusco, Carlo, Spagnoli, Carlotta, Salerno, Grazia Gabriella, Pavlidis, Elena, Frattini, Daniele, Pisani, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658948/
https://www.ncbi.nlm.nih.gov/pubmed/29078790
http://dx.doi.org/10.1186/s13052-017-0414-4

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