General Information of Disease (ID: DISBL9ZU)

Disease Name FHL1-related myopathy
Synonyms 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.
Disease Hierarchy
DISU0K94: Hereditary skeletal muscle disorder
DISOWG27: Myopathy
DISBL9ZU: FHL1-related myopathy