Article
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
American journal of human genetics - 1 Oct 2003
Verhoeven Kristien, De Jonghe Peter, Van de Putte Tom, Nelis Eva, Zwijsen An, Verpoorten Nathalie, De Vriendt Els, Jacobs An, Van Gerwen Veerle, Francis Annick, Ceuterick Chantal, Huylebroeck Danny, Timmerman Vincent
Abstract excerpt
Slowed nerve-conduction velocities (NCVs) are a biological endophenotype in the majority of the hereditary motor and sensory neuropathies (HMSN). Here, we identified a family with autosomal dominant segregation of slowed NCVs without the clinical phenotype of HMSN. Peripheral-nerve biopsy showed predominantly thinly myelinated axons. We identified a locus at 8p23 and a Thr109Ile mutation in ARHGEF10, encoding a...
Topics
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 8
- Female
- Genetic Markers
- Guanine Nucleotide Exchange Factors
- Humans
- Male
- Mice