myofibrillar myopathy
Findings
No curated finding names myofibrillar myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
Definition from the Mondo Disease Ontology (MONDO:0018943), read 2026-09-29. CC BY 4.0.
Genes
2 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.
Where it sits
- Narrower terms (13)
- central core myopathy
- fatal infantile hypertonic myofibrillar myopathy
- myofibrillar myopathy 1
- myofibrillar myopathy 10
- myofibrillar myopathy 11
- myofibrillar myopathy 3
- myofibrillar myopathy 4
- myofibrillar myopathy 5
- myofibrillar myopathy 6
- myofibrillar myopathy 7
- myofibrillar myopathy 8
- myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- myopathy, myofibrillar, 13, with rimmed vacuoles
Other names
1 name
Resolves to: myofibrillar myopathy
- Also called
- myofibrillar myopathy (disease)