Features include always present findings: Poor head control, Low muscle tone (hypotonia), Difficulty swallowing (dysphagia), and Respiratory distress; and very common findings: Respiratory failure, Sideways curvature of the spine (scoliosis), EMG: myopathic abnormalities, and Increased variability in muscle fiber diameter. 33 total HPO annotations.

MEGF10 encodes multiple EGF like domains 10 (1,140 aa). Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Highest expression in Brain Spinal cord cervical c-1 (16.1 TPM) and Brain Caudate basal ganglia (10.4 TPM).

MEGF10-related myopathy is caused by mutations in the MEGF10 gene on chromosome 5.

MEGF10 is classified as a druggable target with score 0.0.

Genetic testing for MEGF10 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 4 always present features, 4 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for MEGF10-related myopathy.

8 publications have been identified in PubMed for MEGF10-related myopathy. Research spans Case Report / Case Series (75%), Other (13%), and Basic Science / Preclinical (13%).

Recent Publications

• Zhu B (2026). [PMID: 41475242](https://pubmed.ncbi.nlm.nih.gov/41475242/). *Neuromuscul Disord*. [Case Report / Case Series]

• Kleiser B (2025). [PMID: 41262623](https://pubmed.ncbi.nlm.nih.gov/41262623/). *Case Rep Neurol Med*. [Case Report / Case Series]

• Feng KF (2025). [PMID: 41402106](https://pubmed.ncbi.nlm.nih.gov/41402106/). *Zhonghua Xin Xue Guan Bing Za Zhi*. [Case Report / Case Series]

• Darfallah L (2025). [PMID: 39827508](https://pubmed.ncbi.nlm.nih.gov/39827508/). *Rev Esp Patol*. [Case Report / Case Series]

• Dofash L (2024). [PMID: 39121631](https://pubmed.ncbi.nlm.nih.gov/39121631/). *Neuromuscul Disord*. [Case Report / Case Series]