Article
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Neurology - 10 Oct 2023
Sarkozy Anna, Sa Mario, Ridout Deborah, Fernandez-Garcia Miguel Angel, Distefano Maria Grazia, Main Marion, Sheehan Jennie, Manzur Adnan Y, Munot Pinki, Robb Stephanie, Wraige Elizabeth, Quinlivan Rosaline, Scoto Mariacristina, Baranello Giovanni, Gowda Vasantha, Mein Rachael, Phadke Rahul, Jungbluth Heinz, Muntoni Francesco
Abstract excerpt
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...
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