Article
Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.
Neurology - 1 Dec 1997
Gabriel J M, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck A J
Abstract excerpt
A duplication of a 1.5-Megabase genomic region encompassing the gene for the peripheral myelin protein 22 (PMP22) is found on chromosome 17p11.2-12 in Charcot-Marie-Tooth disease type 1A (CMT1A), whereas the reciprocal deletion is associated with hereditary neuropathy with liability to pressure p...
Topics
- Adolescent
- Adult
- Biopsy
- Charcot-Marie-Tooth Disease
- Child
- Female
- Gene Dosage
- Genetic Predisposition to Disease
- Genotype
- Humans
- Immunohistochemistry
- Male
- Middle Aged
- Myelin Basic Protein
- Myelin P0 Protein