FHL1-related myopathy

FHL1-related myopathy

Definition

A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.

Also known as FHL1-related myopathy — per MONDO