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Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.
Features include always present findings: Weakness of facial musculature; and very common findings: Axial muscle weakness. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 7 | Fatigable weakness, Muscle spasm, Gowers sign |
Lab test results | 2 | Anti-neuromuscular Junction acetylcholine receptor antibody positivity, Mildly elevated creatine kinase |
Head and neck | 1 | Weakness of facial musculature |
Eyes | 1 | Ptosis |
Pregnancy and birth | 1 | Decreased fetal movement |
Brain and nerves | 1 | Waddling gait |
Lungs and breathing | 1 | Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness) |
DOK7 encodes docking protein 7 (504 aa). Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Highest expression in Pituitary (28.3 TPM) and Heart Atrial Appendage (27.8 TPM).
Congenital myasthenic syndrome 10 is caused by mutations in the DOK7 gene on chromosome 4.
DOK7 is classified as a druggable target (Kinase category) with score 0.0.
Genetic testing for DOK7 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital myasthenic syndrome 10 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 3 common features.
No clinical trials have been registered for congenital myasthenic syndrome 10.
6 publications have been identified in PubMed for congenital myasthenic syndrome 10. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).
Takhman M (2025). [PMID: 41382066](https://pubmed.ncbi.nlm.nih.gov/41382066/). *BMC Neurol*. [Review / Meta-Analysis]
Finsterer J (2025). [PMID: 40330390](https://pubmed.ncbi.nlm.nih.gov/40330390/). *Cureus*. [Case Report / Case Series]
Krenn M (2025). [PMID: 41004697](https://pubmed.ncbi.nlm.nih.gov/41004697/). *Neurology*. [Diagnostic / Biomarker]
Cossins J (2025). [PMID: 39944742](https://pubmed.ncbi.nlm.nih.gov/39944742/). *Brain Commun*. [Clinical Trial Publication]
Ziaadini B (2024). [PMID: 38907197](https://pubmed.ncbi.nlm.nih.gov/38907197/). *BMC Neurol*. [Review / Meta-Analysis]
Theuriet J (2024). [PMID: 38696726](https://pubmed.ncbi.nlm.nih.gov/38696726/). *Brain*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Oct 4, 2026, 6:17 AM UTC
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