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Human Disease

congenital myopathy 10B

Term ID
DOID:0081345
Synonyms
Definition
A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. https://pubmed.ncbi.nlm.nih.gov/29128256/
References
Ontology
Human Disease   ( DOID:0081345 )
Relationships
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Genes Involved
Zebrafish Models