Article
De-novo mutation in hereditary motor and sensory neuropathy type I.
Lancet (London, England) - 2 May 1992
Hoogendijk J E, Hensels G W, Gabreëls-Festen A A, Gabreëls F J, Janssen E A, de Jonghe P, Martin J J, van Broeckhoven C, Valentijn L J, Baas F
Abstract excerpt
Isolated cases of hereditary motor and sensory neuropathy type I (HMSN I, Charcot-Marie-Tooth disease type 1) have been thought to be most frequently autosomal recessive. We have found that a recently discovered duplication in chromosome 17, responsible for most cases of autosomal dominant HMSN I, is present as a de-novo mutation in 9 out of 10 sporadic patients. This finding has important implications for...
Topics
- Adolescent
- Adult
- Charcot-Marie-Tooth Disease
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, 16-18
- Female
- Humans
- Male
- Multigene Family