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

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

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...

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Bibliographic Details
Main Authors: Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Italian Journal of Pediatrics
Subjects:
HNPP
PMP22
Neuropathy
Childhood
Point mutation
Online Access:http://link.springer.com/article/10.1186/s13052-017-0414-4

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http://link.springer.com/article/10.1186/s13052-017-0414-4

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