FHL1-related myopathy

rare

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.

Identifiers: MONDO:0800462
Causal genes: FHL1
Part of: Hereditary skeletal muscle disorder Myopathy

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Uruguay Faciocardiomusculoskeletal syndrome	MONDO:0010292
X-linked myopathy with postural muscle atrophy	MONDO:0010401
X-linked scapuloperoneal muscular dystrophy	MONDO:0010400
Myopathy, reducing body, X-linked, childhood-onset	MONDO:0010415
Myopathy, reducing body, X-linked, early-onset, severe	MONDO:0010414

Rare disease

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