Article
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
Annals of neurology - 1 Oct 1994
Mariman E C, Gabreëls-Festen A A, van Beersum S E, Valentijn L J, Baas F, Bolhuis P A, Jongen P J, Ropers H H, Gabreëls F J
Abstract excerpt
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder of the peripheral nerves leading to increased susceptibility to mechanical traction or compression. Some patients have been shown to be carriers of a 1.5-Mb deletion in chromosome 17p11.2, which corr...
Topics
- Chromosomes, Human, Pair 17
- Family
- Gene Deletion
- Genetic Markers
- Humans
- Mutation
- Myelin Proteins
- Paralysis
- Pedigree
- Peripheral Nervous System Diseases
- Polymorphism, Single-Stranded Conformational
- Pressure