Malignant hypothermia (MH) and central core disease (CCD), rare genetic skeletal muscle disorders, have been the subject of study by researchers who have explained the cause.
Muscular Dystrophy / Duchenne Muscular Dystrophy - Overview
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
The team addressed several questions concerning how RYR1 function is altered by the Ile4895Thr mutation. Their findings demonstrate, for the first time, that the muscle weakness associated with MH and CCD arises from a dominant-negative effect, a reduction in the magnitude and rate of calcium release by the mutant RYR1 receptors during EC coupling. The reduction in calcium release in turn leads to reduced muscle force generation.
About Myotonic Dystrophy
Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults and children.
Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults and children.
International Effort to Improve Muscular Dystrophy Treatment Led by Rochester
Physicians, physical therapists, and researchers at the University of Rochester Medical Center are launching a large international study aimed at improving the care of muscular dystrophy
Physicians, physical therapists, and researchers at the University of Rochester Medical Center are launching a large international study aimed at improving the care of muscular dystrophy
Mystery of Rare Genetic Bone Disease may be Solved by Ancient Irish Skeletons
Medical experts may be able to solve the mystery behind a rare bone disease after two ancient skeletons with the genetic bone disease were unearthed from a medieval Irish graveyard.
Medical experts may be able to solve the mystery behind a rare bone disease after two ancient skeletons with the genetic bone disease were unearthed from a medieval Irish graveyard.
