Article
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Brain : a journal of neurology - 1 Aug 1998
Lenssen P P, Gabreëls-Festen A A, Valentijn L J, Jongen P J, van Beersum S E, van Engelen B G, van Wensen P J, Bolhuis P A, Gabreëls F J, Mariman E C
Abstract excerpt
In six families with hereditary neuropathy with liability to pressure palsies (HNPP) the 17p11.2 deletion was absent, but single strand conformation-analysis and subsequent sequencing demonstrated a heterozygous G-insertion in a stretch of six Gs at nt 276281 of the PMP22 gene, resulting in a fra...
Topics
- Adolescent
- Adult
- Aged
- Child
- DNA Transposable Elements
- Electrophysiology
- Female
- Frameshift Mutation
- Gene Deletion
- Hereditary Sensory and Motor Neuropathy
- Heterozygote