Nemaline Myopathy 2 (NEM2)

Nemaline Myopathy 2, also known as nem2, is related to congenital myopathy and nemaline myopathy, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. An important gene associated with Nemaline Myopathy 2 is NEB (Nebulin), and among its related pathways/superpathways are Cardiac conduction and Pyrimidine metabolism. Affiliated tissues include skeletal muscle and eye, and related phenotypes are weakness of facial musculature and foot dorsiflexor weakness