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A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.
Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, and Increased variability in muscle fiber diameter. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 10 | Achilles tendon contracture, Muscle fiber splitting, Centrally nucleated skeletal muscle fibers |
Brain and nerves | 2 | Polyneuropathy, Hyporeflexia of lower limbs |
Lab test results | 1 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Bones and joints | 1 | Centrally nucleated skeletal muscle fibers |
Heart and blood vessels | 1 | Heart muscle disease (cardiomyopathy) |
Arms and legs | 1 | Hyporeflexia of lower limbs |
MYOT encodes myotilin (498 aa). Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells Highest expression in Muscle Skeletal (602.6 TPM) and Nerve Tibial (12.9 TPM).
Myofibrillar myopathy 3 is associated with mutations in the MYOT gene on chromosome 5.
MYOT is classified as a druggable target with score 0.0.
Genetic testing for MYOT is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for myofibrillar myopathy 3.
2 publications have been identified in PubMed for myofibrillar myopathy 3. Research spans Case Report / Case Series (50%) and Epidemiology / Natural History (50%).
Spinazzi M (2025). [PMID: 39757377](https://pubmed.ncbi.nlm.nih.gov/39757377/). *European journal of neurology*. [Case Report / Case Series]
Wang Q (2024). [PMID: 39973468](https://pubmed.ncbi.nlm.nih.gov/39973468/). *Journal of neuromuscular diseases*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center