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

• Main Authors: Carlo Fusco (Author), Carlotta Spagnoli (Author), Grazia Gabriella Salerno (Author), Elena Pavlidis (Author), Daniele Frattini (Author), Francesco Pisani (Author)
• Format: Book
• Published: BMC, 2017-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...