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• W2000720873 abstract "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" @default.
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• W2000720873 date "2011-02-17" @default.
• W2000720873 modified "2023-10-12" @default.
• W2000720873 title "REPORT of a novel mutation in the <i>PMP22</i> gene causing an axonal neuropathy" @default.
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• W2000720873 doi "https://doi.org/10.1002/mus.21973" @default.
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