Congenital Myopathy 5 with Cardiomyopathy (CMYP5)

Congenital Myopathy 5 with Cardiomyopathy, also known as early-onset myopathy with fatal cardiomyopathy, is related to autosomal recessive limb-girdle muscular dystrophy type 2j and muscular dystrophy, limb-girdle, autosomal recessive 10, and has symptoms including facial paresis An important gene associated with Congenital Myopathy 5 with Cardiomyopathy is TTN (Titin). Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and ptosis