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Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

✍ Scribed by Sylvia Bort; Teresa Sevilla; Javier García-Planells; David Blesa; Nuria Paricio; Juan J. Vílchez; Felix Prieto; Francesc Palau


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
351 KB
Volume
11
Category
Article
ISSN
1059-7794

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There is phenotypic heterogeneity in patients with hereditary neuropathy with liability to pressure palsies. In rare cases, recurrent brachial plexopathy is the only expression of the disease. We describe a patient with three episodes of plexus brachialis palsy and a de novo deletion of the peripher