Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies
β 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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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
## Abstract __Introduction__: Diagnostic nerve ultrasound is becoming more commonly used by both radiologists and clinicians. The features of different neuromuscular conditions must be described to broaden our understanding and ability to interpret findings. __Methods__: Our study examines the sono
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
## 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 (PMPβ22). A βgene dosageβ effect is probably the mechanism underlying HNPP, but the amount of PMPβ22 mRNA in