Article
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.
Acta neurologica Scandinavica - 1 Oct 1995
Gonnaud P M, Sturtz F, Fourbil Y, Bonnebouche C, Tranchant C, Warter J M, Chazot G, Bady B, Vial C, Brechard A S
Abstract excerpt
We performed DNA analysis in four families with hereditary neuropathy with liability to pressure palsy (HNPP). An interstitial deletion of the 17 p11.2 region was found in typically affected patients as well as in as yet asymptomatic patients. The opportunity for an individual genotyping permitted to ascertain a de novo deletion in one clinically affected case with no relevant familial history. DNA analysis thus...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.