Journal
MUSCLE & NERVE
Volume 43, Issue 4, Pages 605-610Publisher
WILEY
DOI: 10.1002/mus.21973
Keywords
case report; Charcot-Marie-Tooth; hereditary neuropathy; peripheral nervous system; PMP22
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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 43: 605-610, 2011
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