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- W2029580189 abstract "Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52-year-old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP-22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP-22 gene." @default.
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- W2029580189 date "2007-01-01" @default.
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- W2029580189 title "Bilateral hand amyotrophy with PMP-22 gene deletion" @default.
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- W2029580189 doi "https://doi.org/10.1111/j.1468-1331.2006.01576.x" @default.
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