## 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 “gene dosage” effect is probably the mechanism underlying HNPP, but the amount of PMP‐22 mRNA in
✦ LIBER ✦
A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype
✍ Scribed by Carlos Casasnovas; Isabel Banchs; Laura De Jorge; Maria Antónia albertí; Yolanda Martínez–Campo; Mónica Povedano; Jordi Montero; Victor Volpini
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 425 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0148-639X
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There is phenotypic heterogeneity in patients with hereditary neuropathy with liability to pressure palsies. In rare cases, recurrent brachial plexopathy is the only expression of the disease. We describe a patient with three episodes of plexus brachialis palsy and a de novo deletion of the peripher