Article
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Neuromuscular disorders : NMD - 1 Jul 2015
Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S
Abstract excerpt
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic myopathy triggered by exposure to volatile anesthetics and/or depolarizing muscle relaxants. Susceptibility to MH is primarily associated with dominant mutations in the ryanodine receptor type 1 gene (RYR1). Recent genetic studies have shown that RYR1 variants are the most common cause of dominant and recessive congenital myopathies - central core...
Topics
- Adult
- Child
- Child, Preschool
- Family
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Variation
- Heterozygote
- Humans
- Leg
- Male
- Malignant Hyperthermia
- Middle Aged