Fig. 1

Muscle biopsy stained with COX from patients with core myopathy. In each panel is reported the patient #, the RYR1 mutation and RyR1 protein domain where the mutation is located. Central core (CC) (single or multiple, centrally or peripherally located) are shown in patient #2, 3, 47, 23, 21, 22, 67 and 56. In patient #56 a minority of muscle fibers showed CC where minicores (Mm) (multiple, small randomly distributed areas with focal loss of mitochondrial activity) were more abundant. Patient #22 showed both CC and Mm where patient #31 muscle biopsy showed only Mm. Neither the RYR1 mutation nor the RyR1 protein domain predict the ratio between CC and Mm