REPORT of a novel mutation in the PMP22
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Burkhard Gess; Astrid Jeibmann; Anja Schirmacher; Ilka Kleffner; Matthias Schill
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Article
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2011
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John Wiley and Sons
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English
⚖ 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