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
BACKGROUND AND OBJECTIVES: 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. METHODS: A cross-sectional and longitudinal retrospective data analysis of pediatric cases with RYR1 -related myopathies seen between 1992-2019 in 2 large UK centers. Patients were identified, and data were collected from individual medical records...
October 10, 2023: Neurology