DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations

Recurrent brachial plexus palsies as the

Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene

✍ Florian Stögbauer; Peter Young; Max Kerschensteiner; E. Bernd Ringelstein; Gerd 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB 👁 2 views

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