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Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Broad neck; and common findings: Postexertional symptom exacerbation, Muscle spasm, Increased circulating troponin I concentration, and Flexion contracture of finger and others. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 9 | Muscle spasm, Flexion contracture of finger, Percussion myotonia |
SVIL function has not been fully characterized.
Myofibrillar myopathy 10 is associated with mutations in the SVIL gene on chromosome 10.
Genetic testing for SVIL is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for myofibrillar myopathy 10 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 15 common features.
No clinical trials have been registered for myofibrillar myopathy 10.
14 publications have been identified in PubMed for myofibrillar myopathy 10. Research spans Review / Meta-Analysis (21%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 3 | 21% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC
Online Mendelian Inheritance in Man
Lab test results | 2 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Increased circulating troponin I concentration |
Arms and legs | 1 | Flexion contracture of finger |
Bones and joints | 1 | Excessive outward curvature of the upper spine (kyphosis) |
Heart and blood vessels | 1 | Thickened left heart wall (left ventricular hypertrophy) |
Head and neck | 1 | Mandibular prognathia |
3 |
21% |
Disease patterns and progression | 3 | 21% |
Other research | 2 | 14% |
Patient case studies | 2 | 14% |
Testing and diagnosis research | 1 | 7% |
Mathy CS (2026). [PMID: 41854206](https://pubmed.ncbi.nlm.nih.gov/41854206/). *J Cachexia Sarcopenia Muscle*. [Diagnostic / Biomarker]
Daire E (2026). [PMID: 41736716](https://pubmed.ncbi.nlm.nih.gov/41736716/). *Front Genet*. [Other]
Lütkemeyer A (2026). [PMID: 41880120](https://pubmed.ncbi.nlm.nih.gov/41880120/). *Mol Biol Rep*. [Basic Science / Preclinical]
Han Y (2025). [PMID: 41144497](https://pubmed.ncbi.nlm.nih.gov/41144497/). *PLoS Genet*. [Review / Meta-Analysis]
Xing G (2025). [PMID: 41440871](https://pubmed.ncbi.nlm.nih.gov/41440871/). *J Cardiovasc Dev Dis*. [Basic Science / Preclinical]
Wannarong T (2025). [PMID: 41183253](https://pubmed.ncbi.nlm.nih.gov/41183253/). *Neurology*. [Epidemiology / Natural History]
Daire E (2025). [PMID: 41378130](https://pubmed.ncbi.nlm.nih.gov/41378130/). *Front Genet*. [Review / Meta-Analysis]
Fernández-Eulate G (2025). [PMID: 40493734](https://pubmed.ncbi.nlm.nih.gov/40493734/). *Brain*. [Epidemiology / Natural History]
Holtzhausen C (2025). [PMID: 40947309](https://pubmed.ncbi.nlm.nih.gov/40947309/). *Neuropathol Appl Neurobiol*. [Basic Science / Preclinical]
Lindsay-McGee V (2025). [PMID: 38965932](https://pubmed.ncbi.nlm.nih.gov/38965932/). *Equine Vet J*. [Other]