hereditary neuropathy with pressure palsies

(redirected from Hereditary Neuropathy with Liability to Pressure Palsies)
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hereditary neuropathy with pressure palsies

An autosomal dominant disorder (OMIM:162500) characterised by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor trauma.

Molecular pathology
Defects in PMP22, which encodes peripheral myelin protein 22, cause hereditary neuropathy with pressure palsies.
References in periodicals archive ?
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst 1999;4:117-22.
A frameshift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994;6:263-6.
[1] Nonstandard abbreviations: CMT1A, Charcot-Marie-Tooth disease type 1A; HNPP, hereditary neuropathy with liability to pressure palsies; PFGE, pulsed-field gel electrophoresis; and AR, androgen receptor.
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