Article
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Human mutation - 1 Jan 1997
Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat J M, Louboutin J P, Bouche P, Agid Y, Brice A
Abstract excerpt
Charcot-Marie-Tooth disease can be inherited either autosomal dominantly or recessively or linked to the X chromosome. X-linked dominant Charcot-Marie-Tooth disease (CMTX) is a sensorimotor peripheral neuropathy in which males have usually more severe clinical symptoms and decreased nerve conduct...
Topics
- Amino Acid Sequence
- Charcot-Marie-Tooth Disease
- Connexins
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Motor Neurons
- Mutation
- Neural Conduction
- Polymorphism, Single-Stranded Conformational
- X Chromosome