FHL1-related myopathy
MONDO:0800462Mondo
Findings
No curated finding names FHL1-related myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0800462), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FHL1HGNC:3702
- Strong · PanelApp Australia · X-linked · 2025