Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

Conclusions:
This series confirms and expands the clinical and histologic variability associated with severe congenital RYR1-associated myopathy. Both dominant and recessive mutations of the RYR1 gene can result in a severe neonatal-onset phenotype, but more clinical and histologic heterogeneity has been seen in those with recessive RYR1 gene mutations. Central cores are not obligatory histologic features in recessive RYR1 mutations. Sparing of the rectus femoris muscle on imaging should prompt evaluation for RYR1-associated myopathy in the appropriate clinical context.

Source: Neurology - April 22, 2013 Category: Neurology Authors: Bharucha-Goebel, D. X., Santi, M., Medne, L., Zukosky, K., Dastgir, J., Shieh, P. B., Winder, T., Tennekoon, G., Finkel, R. S., Dowling, J. J., Monnier, N., Bonnemann, C. G. Tags: Ultrasound, Muscle disease, All Pediatric, All Genetics ARTICLE Source Type: research