myopathy
MONDO:0005336Mondo
Findings
No curated finding names myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.
Definition from the Mondo Disease Ontology (MONDO:0005336), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- MyopathyMondoHP:0003198
Genes
4 genes
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.
- MYBPC1HGNC:7549
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PACSIN3HGNC:8572
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · LiferaOmics · Autosomal recessive · 2026
- HGNC:27023HGNC:27023
- Limited · Ambry Genetics · Autosomal recessive · 2019
- P2RX6HGNC:8538
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
- Narrower terms (31)
- acute quadriplegic myopathy
- Brody myopathy
- collagen 6-related myopathy
- congenital myopathy
- drug-induced myopathy
- FHL1-related myopathy
- hereditary continuous muscle fiber activity
- hereditary inclusion-body myopathy
- intermediate nemaline myopathy
- metabolic myopathy
- muscular atrophy
- muscular dystrophy
- myofascial pain syndrome
- myopathy caused by variation in CRPPA
- myopathy caused by variation in FKRP
- myopathy caused by variation in FKTN
- myopathy caused by variation in GMPPB
- myopathy caused by variation in POMGNT1
- myopathy caused by variation in POMGNT2
- myopathy caused by variation in POMT1
- myopathy caused by variation in POMT2