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Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

✍ Scribed by Jun Li; Karen Krajewski; Richard A. Lewis; Michael E. Shy


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
84 KB
Volume
29
Category
Article
ISSN
0148-639X

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Fulminant case of hereditary neuropathy
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Hereditary neuropathy with liability to pressure palsy (HNPP) is typified as isolated nerve palsies caused by trivial compression or trauma. It rarely presents in two extremities and even more infrequently affects all four limbs simultaneously. We present a patient who concurrently experienced right

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Hereditary neuropathy with liability to pressure palsies (HNPP) is usually caused by a 1.5-Mb deletion in chromosome 17~11.2, the inverse mutation to the duplication seen in the majority of Charcot-Marie-Tooth type 1A (CMT IA) patients. Although most patients with HNPP present with pressure palsies

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## Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p 11.2, which includes the gene for the peripheral myelin protein 22 (PMP‐22). A β€œgene dosage” effect is probably the mechanism underlying HNPP, but the amount of PMP‐22 mRNA in