
Exercise capacity in RYR1-related myopathies
Background
Pathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies. Considered the most common form of congenital myopathy, individuals with RYR1-related myopathies may experience skeletal muscle weakness and fatigue, as well as reduced functional capacity. This study examined the exercise capacity in individuals with RYR1-related myopathies during a cardiopulmonary exercise test.