Article
Norrbottnian congenital insensitivity to pain.
Acta orthopaedica. Supplementum - 1 Apr 2006
Minde Jan K
Abstract excerpt
Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a...
Topics
- Female
- Gene Expression Regulation
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation
- Nerve Growth Factors
- Pain Insensitivity, Congenital
- Pedigree
- Prevalence
- Risk Assessment
- Sweden
