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REPORT of a novel mutation in the PMP22 gene causing an axonal neuropathy

✍ Scribed by Burkhard Gess; Astrid Jeibmann; Anja Schirmacher; Ilka Kleffner; Matthias Schilling; Peter Young

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
751 KB
Volume
43
Category
Article
ISSN
0148-639X

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✦ Synopsis

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. Methods: In this study we characterized a family with an axonal neuropathy. Results: Three family members carried a heterozygous point mutation of the PMP22 gene, resulting in amino acid substitution R159C. Screening of 185 healthy controls did not reveal the R159C allele in any case. Discussion: The novel R159C mutation represents a very rare case of a dominant PMP22 mutation causing an axonal neuropathy. Muscle Nerve, 2011

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