Article
Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).
Cytogenetics and cell genetics - 1 Jan 1994
Le Guern E, Sturtz F, Gugenheim M, Gouider R, Bonnebouche C, Ravisé N, Gonnaud P M, Tardieu S, Bouche P, Chazot G
Abstract excerpt
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy which is characterized by recurrent episodes of truncular palsies. We have analyzed the D17S122 locus in 7 French families, including 18 affected members, with microsatellite RM11GT and...
Topics
- Alleles
- Base Sequence
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- DNA
- Female
- France
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Peripheral Nervous System Diseases
- Phenotype
- Polymorphism, Restriction Fragment Length