Article
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
Human mutation - 1 Jan 1995
Valentijn L J, Ouvrier R A, van den Bosch N H, Bolhuis P A, Baas F, Nicholson G A
Abstract excerpt
We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine-Sottas neuropathy. Single-stranded conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Se...
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- DNA
- Exons
- Female
- Genes, Dominant
- Hereditary Sensory and Motor Neuropathy
- Humans
- Male
- Molecular Sequence Data
- Myelin Proteins
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic