Recently Identified Congenital Myopathies

Abstract

Congenital myopathies (CM) are a large and heterogeneous group of disorders. Many new myopathies with congenital onset have recently been described phenotypically, and their molecular elucidation has rapidly ensued consecutively. CM reported between 2013 and 2017 and their corresponding gene defects have mostly been identified with modern molecular genetic techniques. Here, we report recently identified CM that have not been included in the 2017 gene table so far, of which some have been recognized with mutations in new genes and others have been recognized as variants of previously identified genes, associated with specific CM phenotypes.