Article
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Human genetics - 1 Dec 1994
Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin J J, Van Broeckhoven C
Abstract excerpt
Charcot-Marie-Tooth type 1 (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutation...
Topics
- Base Sequence
- Charcot-Marie-Tooth Disease
- Humans
- Molecular Sequence Data
- Mutation
- Myelin P0 Protein
- Myelin Proteins
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational