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Recurrent polyradiculoneuropathy with the 17p11.2 deletion

✍ Scribed by Nadine Le Forestier; Eric LeGuern; Philippe Coullin; Nazha Birouk; Thierry Maisonobe; Alexis Brice; Jean Marc Léger; Pierre Bouche


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
24 KB
Volume
20
Category
Article
ISSN
0148-639X

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✦ Synopsis


Hereditary neuropathy with liability to pressure palsies (HNPP) classically occurs as recurrent focal neuropathy. We report the first known instance of HNPP manifesting, over a 15-year period, as a recurrent sensorimotor polyneuropathy and confirmed by the presence of the PMP-22 gene deletion. We suggest that the molecular study of the 17p11.2 region could be an effective non invasive investigative tool in cases of chronic recurrent polyneuropathy associated with episodes of nerve palsy.


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An additional case of deletion 17p11.2
✍ Popp, David W. ;Johnson, Chris P. ;Stratton, Robert F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB