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Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients

✍ Scribed by Paola Mandich; Rosella James; Stefano Nassani; Raffaella Defferrari; Emilia Bellone; GianLuigi Mancardi; Angelo Schenone; Michele Abbruzzese; Mariano Rocchi; Franco Ajmar; Nicoletta Archidiacono

Publisher: Springer
Year: 1995
Tongue: English
Weight: 378 KB
Volume: 242
Category: Article
ISSN: 0340-5354
DOI: 10.1007/bf00878871

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Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent mononeuropathies or brachial plexopathies, commonly associated with a chromosome 17p11.2-12 deletion encompassing the peripheral myelin protein-22 (PMP22) gene. We tried to id

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