Article
Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients.
Journal of neurology - 1 May 1995
Mandich P, James R, Nassani S, Defferrari R, Bellone E, Mancardi G, Schenone A, Abbruzzese M, Rocchi M, Ajmar F
Abstract excerpt
Hereditary neuropathy with a liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent pressure palsies generally precipitated by minor trauma; weakness and paraesthesia usually improve and recover completely in a few months. By Southern blotting and fluore...
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 17
- Genes, Dominant
- Genetic Counseling
- Humans
- Italy
- Pedigree
- Peripheral Nervous System Diseases
- Phenotype