Article
Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy.
Clinical genetics - 1 Jan 1995
Guzzetta V, Santoro L, Gasparo-Rippa P, Ragno M, Vita G, Caruso G, Andria G
Abstract excerpt
The syndrome of peroneal muscular atrophy, or Charcot-Marie-Tooth (CMT), disease represents the most common inherited peripheral neuropathy, with a prevalence of about 1 per 2500. The disease is usually transmitted in an autosomal dominant fashion, although it can display all the mendelian patter...
Topics
- Blotting, Southern
- Charcot-Marie-Tooth Disease
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Female
- Genetic Linkage
- Genotype
- Humans
- Italy
- Male
- Pedigree
- Phenotype
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid