Matthew T. Sipple

Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy

A cardinal sign of myotonic dystrophy type 1 (DM1) is myotonia, slow muscle relaxation after voluntary contraction. Myotonia results from mis-regulated splicing of chloride channel 1 (ClC-1), leading to loss of channel function and runs of involuntary action potentials in muscle fibers. Preceding the onset of weakness,...