Article
Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a).
Neurology - 1 May 1993
Hoogendijk J E, Janssen E A, Gabreëls-Festen A A, Hensels G W, Joosten E M, Gabreëls F J, Zorn I, Valentijn L J, Baas F, Ongerboer de Visser B W
Abstract excerpt
The most frequently found mutation in autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) is a large duplication on chromosome 17p11.2 containing probes VAW409R3, VAW412R3, and EW401. We investigated a family with severe features of HMSN I, and demonstrated the absence of t...
Topics
- Adult
- Alleles
- Blotting, Southern
- Charcot-Marie-Tooth Disease
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- DNA
- Female
- Genetic Markers
- Humans
- Male
- Multigene Family
- Mutation
- Pedigree
- Restriction Mapping