Article
Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies.
Neurology - 1 Apr 1991
Nicholson G A
Abstract excerpt
The clinical expression of hereditary motor and sensory neuropathy type I (HMSN I) is age-dependent. Autosomal dominant HMSN I is heterogeneous at a molecular level with genes localized on chromosomes 1, 17, and possibly other chromosomes. In order to define accurately the penetrance of a single HMSN I gene mutation, we performed nerve conduction studies in HMSN I families whose genetic defect was linked to...
Topics
- Aging
- Charcot-Marie-Tooth Disease
- Electrophysiology
- Humans
- Mutation
- Neural Conduction
- Reaction Time