Article
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
Clinical genetics - 1 Jul 1995
Fagerlund T H, Islander G, Twetman E R, Berg K
Abstract excerpt
Eight mutations in the gene (the RYR1 gene) encoding the calcium release channel of sarcoplasmic reticulum (SR) in skeletal muscle are so far known to be very closely linked to malignant hyperthermia susceptibility in man and are regarded to be causative. We have examined 41 Swedish families wher...
Topics
- Adult
- Base Sequence
- Calcium Channels
- Calmodulin-Binding Proteins
- Causality
- Child, Preschool
- DNA Primers
- Female
- Humans
- Male
- Malignant Hyperthermia
- Molecular Sequence Data
- Muscle Proteins
- Mutation
- Pedigree
- Ryanodine Receptor Calcium Release Channel
- Sweden