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A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

✍ Scribed by Maria Muglia; Alessandra Patitucci; Romana Rizzi; Carmine Ungaro; Francesca Luisa Conforti; Anna Lia Gabriele; Angela Magariello; Rosalucia Mazzei; Luisa Motti; Rossella Sabadini; Teresa Sprovieri; Norina Marcello; Aldo Quattrone

Book ID: 119302385
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 350 KB
Volume: 263
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2007.05.034

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## Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p 11.2, which includes the gene for the peripheral myelin protein 22 (PMP‐22). A “gene dosage” effect is probably the mechanism underlying HNPP, but the amount of PMP‐22 mRNA in