Congenital Myopathy 2a, Typical, Autosomal Dominant (CMYP2A)

Congenital Myopathy 2a, Typical, Autosomal Dominant, also known as nemaline myopathy 3, is related to van der woude syndrome and actin-accumulation myopathy, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. An important gene associated with Congenital Myopathy 2a, Typical, Autosomal Dominant is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are DNA repair pathways, full network and Cytoprotection by HMOX1. Affiliated tissues include skeletal muscle, and related phenotypes are hyperreflexia and hypertonia