![Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy](https://ryr1.org/wp-content/uploads/2024/08/Untitled-design-18.jpg)
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, and 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.
history data are still scarce. We aim to describe the natural history of dominant and recessive
RYR1-related myopathies.