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P3.22 A novel pathogenic mutation of the MPZ gene causing hereditary neuropathy

✍ Scribed by J.M.F. Niermeijer; M. Jansweijer; A. van der Kooi; F. van Ruissen; F. Baas; B.T. Poll-The; W.C.G. Overweg-Plandsoen


Book ID
116795098
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
47 KB
Volume
21
Category
Article
ISSN
0960-8966

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REPORT of a novel mutation in the PMP22
✍ Burkhard Gess; Astrid Jeibmann; Anja Schirmacher; Ilka Kleffner; Matthias Schill πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 751 KB

## Abstract Introduction: Point mutations in the peripheral myelin protein 22 (__PMP22__) gene rarely cause the hereditary neuropathies Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), both of which show a demyelinating phenotype. Meth