Article
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?
Human molecular genetics - 1 Jan 1996
LeGuern E, Gouider R, Ravisé N, Lopes J, Tardieu S, Gugenheim M, Abbas N, Bouche P, Agid Y, Brice A
Abstract excerpt
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant neuropathy, most often associated with a deletion of the 17p11.2 region, which is duplicated in 70% of patients with Charcot-Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of paternal origin. A rare case of de novo HNPP of maternal origin was analysed to determine the underlying mechanism. Affected...
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