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Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.
Features include always present findings: Type 1 muscle fiber predominance, Muscle weakness, and Nemaline bodies; and common findings: Reduced vital capacity, Heart muscle disease (cardiomyopathy), Waddling gait, and High palate. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 3 | Gowers sign, Type 1 muscle fiber predominance, Muscle weakness |
MYPN encodes myopalladin (1,320 aa). Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines Highest expression in Muscle Skeletal (118.8 TPM) and Heart Left Ventricle (28.4 TPM).
MYPN-related myopathy is caused by mutations in the MYPN gene on chromosome 10.
MYPN is classified as a druggable target with score 0.0.
Genetic testing for MYPN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 4 common features.
No clinical trials have been registered for MYPN-related myopathy.
14 publications have been identified in PubMed for MYPN-related myopathy. Research spans Case Report / Case Series (43%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 43% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about MYPN-related myopathy
Head and neck |
2 |
Facial palsy, High palate |
Heart and blood vessels | 2 | First degree atrioventricular block, Heart muscle disease (cardiomyopathy) |
Lab test results | 1 | Abnormal circulating creatine kinase concentration |
Brain and nerves | 1 | Waddling gait |
4 |
29% |
Research summaries | 2 | 14% |
Laboratory research | 2 | 14% |
Ambrose A (2025). [PMID: 39810752](https://pubmed.ncbi.nlm.nih.gov/39810752/). *Neurol Genet*. [Basic Science / Preclinical]
Dittmayer C (2025). [PMID: 40354585](https://pubmed.ncbi.nlm.nih.gov/40354585/). *Neurology*. [Case Report / Case Series]
Shieh PB (2025). [PMID: 40979471](https://pubmed.ncbi.nlm.nih.gov/40979471/). *Ther Adv Rare Dis*. [Review / Meta-Analysis]
Laarne M (2025). [PMID: 40397026](https://pubmed.ncbi.nlm.nih.gov/40397026/). *J Neuromuscul Dis*. [Case Report / Case Series]
Hildebrandt C (2025). [PMID: 40661861](https://pubmed.ncbi.nlm.nih.gov/40661861/). *Neurol Genet*. [Basic Science / Preclinical]
Guo C (2025). [PMID: 41230347](https://pubmed.ncbi.nlm.nih.gov/41230347/). *Eur Heart J Case Rep*. [Case Report / Case Series]
Vlajnic D (2025). [PMID: 40564727](https://pubmed.ncbi.nlm.nih.gov/40564727/). *Children (Basel)*. [Case Report / Case Series]
Karthikeyan P (2024). [PMID: 39548682](https://pubmed.ncbi.nlm.nih.gov/39548682/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]
Gunawardena K (2024). [PMID: 39252049](https://pubmed.ncbi.nlm.nih.gov/39252049/). *J Med Case Rep*. [Case Report / Case Series]
van Kleef ESB (2024). [PMID: 39240645](https://pubmed.ncbi.nlm.nih.gov/39240645/). *J Neuromuscul Dis*. [Case Report / Case Series]