Congenital Myopathy 4a (CFTD)

Congenital Myopathy 4a, also known as congenital myopathy with fiber type disproportion, is related to congenital myopathy 4a, autosomal dominant and congenital multicore myopathy with external ophthalmoplegia. An important gene associated with Congenital Myopathy 4a is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and muscle