Article
[The involvement of myelin proteins in hereditary neuropathies].
Revue neurologique - 1 Feb 1999
Sindou P, Anani T, Garbay B, Couratier P, Lagrange E, Vallat J M
Abstract excerpt
Hereditary sensoro-motor neuropathies such as Charcot-Marie-Tooth disease (CMT) form a heterogeneous group including some genetic conditions whose clinical manifestations differ in severity within a group or even within a sub-group. Diagnosis is based on the clinical, electrophysiological and pathological findings along with a genetic analysis. The current classification of CMT encompasses the clinical signs,...
Topics
- Alleles
- Charcot-Marie-Tooth Disease
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Connexins
- DNA Mutational Analysis
- DNA, Complementary
- Female
- Gap Junctions
- Gene Expression
- Genotype
- Humans
- Male
- Membrane Glycoproteins
- Myelin Proteins
- Phenotype
- Point Mutation