Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies
✍ Scribed by Dr. E. C. M. Mariman; A. A. W. M. Gabreëls-Festen; S. E. C. van Beersum; L. J. Valentijn; F. Baas; P. A. Bolhuis; P. J. H. Jongen; H. H. Ropers; F. J. M. Gabreëls
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 549 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0364-5134
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Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder characterized by a tendency to develop focal neuropathies after trivial traumas. On teased nerve fiber studies, sausage-shaped myelin sheath swellings (tomacula) are found. We report the sonographic findings in a patient w
## Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal‐dominant focal neuropathy characterized by recurrent entrapment neuropathies. Single members of families with HNPP and brachial plexus involvement have been reported previously. We describe a family with thr
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