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• W2018468549 abstract "Article abstract-Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p11.2, including the gene for the peripheral myelin protein 22 (PMP-22). Because of the proposal that a decreased dosage of the PMP-22 gene was the cause of HNPP, we evaluated sural nerves from eight patients with the 17p11.2 deletion and from five normal controls. The relative amount of PMP-22 mRNA was significantly lower in HNPP patients compared with normal controls (p < 0.02) using a semiquantitative reverse transcriptase-polymerase chain reaction. There was no significant decrease of P₀ mRNA. Sural nerves from HNPP patients showed normal immunostaining with monoclonal antibodies against PMP-22, P₀, and myelin basic protein, and only rare myelinated fibers, classified as tomacula, showed a patchy staining of the compact myelin with monoclonal antibody against PMP-22. The significant underexpression of PMP-22 mRNA in HNPP patients compared with normal controls demonstrates that a decreased dosage of the PMP-22 gene is the most likely pathogenetic mechanism in HNPP. <b>NEUROLOGY 1997;48: </b> 445-449" @default.
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• W2018468549 date "1997-02-01" @default.
• W2018468549 modified "2023-09-23" @default.
• W2018468549 title "Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies" @default.
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• W2018468549 doi "https://doi.org/10.1212/wnl.48.2.445" @default.
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