This narrative review summarizes the clinical, myopathologic, molecular, and pathophysiological features of 33 newly identified congenital myopathies discovered through next-generation sequencing.
Next-generation sequencing has expanded the genetic and myopathologic spectrum of congenital myopathies, identifying 33 novel forms.
Congenital myopathies (CMYOs) represent a genetically and clinically heterogeneous group of disorders characterized by early-onset muscle weakness and distinct myopathologic features. The advent of next-generation sequencing (NGS) has accelerated the identification of causative genes, leading to the discovery of novel CMYOs and thereby challenging the traditional classification. In this comprehensive review, we focus on the clinical, myopathologic, molecular and pathophysiological features of 33 newly identified CMYOs.
Onnée et al. (Fri,) conducted a review in Congenital myopathies (CMYOs). This narrative review summarizes the clinical, myopathologic, molecular, and pathophysiological features of 33 newly identified congenital myopathies discovered through next-generation sequencing.