Article
[Genetics of peripheral neuropathies and hereditary ataxias].
Neurologia (Barcelona, Spain) - 1 Dec 1995
Palau F, Sevilla T
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is a hereditary motor-sensory neuropathy with a large genetic heterogeneity. Type 1 (CMT1), or demyelinating CMT, and type 2 (CMT2), or neuronal CMT, are two genetically and clinically distinct entities. CMT1 is the more prevalent and better understood of the two...
Topics
- Alleles
- Charcot-Marie-Tooth Disease
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 9
- Female
- Friedreich Ataxia
- Humans
- Male
- Molecular Sequence Data
- Multigene Family
- Mutagenesis
- Phenotype
- Point Mutation
- Sequence Analysis, DNA
