eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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4/2006
vol. 44
 
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abstract:

Case report
Hereditary neuropathy with liability to pressure palsy

Justyna Paprocka
,
Maciej Kajor
,
Ewa Jamroz
,
Jacek Jesipowicz
,
Pavel Seeman
,
Elżbieta Marszał

Folia Neuropathol 2006; 44 (4): 290–294
Online publish date: 2006/12/07
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Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.
keywords:

hereditary neuropathy with liability to pressure palsy, children, PMP 22 gene, electrophysiological features

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