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...
Topics
- Adult
- Aged
- Chromosomes, Human, Pair 17
- Female
- Gene Deletion
- Gene Rearrangement
- Genetic Markers
- Genotype
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Microsatellite Repeats
- Multigene Family
- Paralysis
- Polymorphism, Restriction Fragment Length