Abstract
RYR1 gene related myopathies (RYR1-RM) are common congenital myopathies with significant clinical and pathological heterogeneity. Detailed natural history data and disease specific outcome measures are highly needed for translational purposes. We conducted a retrospective, multi-centric, cross-sectional and longitudinal study on 72 RYR1-RM patients to better characterize natural history, disease progression and identify relevant outcome measures. Patients were seen at two tertiary neuromuscular centres in London during 1992-2019.
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