Motor performance and disease progression in RYR1-RM

0

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.

Read More...

Leave A Reply