Article
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jan 2012
Taylor A, Lachlan K, Manners R M, Lotery A J
Abstract excerpt
Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associated with malignant hyperthermia susceptibility. Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with various congenital myopathy phenotypes and may also cause malignant hyperthermia susceptibility. We describe nine affected members of an extended family presenting with a myopathy...
Topics
- Adolescent
- Adult
- Blepharoptosis
- Female
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Malignant Hyperthermia
- Muscle, Skeletal
- Muscular Atrophy
- Myopathy, Central Core
- Patellar Dislocation
- Pedigree