CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies - Scalco, Renata Siciliani; Gardiner, Alice R.; Pitceathly, Robert D.S.; Hilton-Jones, David; Schapira, Anthony H.; Turner, Chris; Parton, Matt; Desikan, Mahalekshmi; Barresi, Rita; Marsh, Julie; Manzur, Adnan Y.; Childs, Anne-Marie; et al. (Neuromuscular disorders : NMD, 2016)
Keywords: Adolescent; Adult; Aged, 80 and over; CAV3; Caveolin 3 - genetics; Caveolin 3 - metabolism; Caveolinopathy; Child; Dystroglycans - metabolism; Exercise - physiology; Exercise Intolerance; Exercise Tolerance; Female; Humans; Male; Middle Aged; Muscle Contraction - physiology; Muscle, Skeletal - pathology; Mutation; Myalgia; Myalgia - genetics; Myalgia - metabolism; Myalgia - pathology; Myoglobinuria; Neurology; Phenotype; Rhabdomyolysis; Rhabdomyolysis - genetics; Rhabdomyolysis - metabolism; Rhabdomyolysis - pathology; Rhabdomyolysis; Caveolinopathy; Myalgia; CAV3; Myoglobinuria; Exercise Intolerance