Motor performance and disease progression in RYR1-RM


Ryanodine receptor isoform 1-related congenital myopathies (RYR1-RM) comprise a group of neuromuscular diseases (central core disease, centronuclear myopathy, multi-minicore disease, congenital fiber type disproportion, central core rod disease) that result from pathogenic mutations in RYR1. Consequently, RyR1 channel-mediated calcium dysregulation impairs excitation-contraction coupling. Clinical symptoms range from skeletal muscle weakness and fatigue to respiratory insufficiency and extraocular involvement.


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