Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy
Anna Sarkozy, Mario Sa, Deborah Ridout, Miguel Angel Fernandez-Garcia, Maria Grazia Distefano, Marion Main, Jennie Sheehan, Adnan Y. Manzur, Pinki Munot, Stephanie Robb, Elizabeth Wraige, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Vasantha Gowda, Rachael Mein, Rahul Phadke, Heinz Jungbluth, & Francesco Muntoni
Abstract
RYR1-related myopathies are the most common congenital myopathies, but long-term natural history data are still scarce. We aim to describe the natural history of dominant and recessive RYR1-related myopathies.
