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

• MIM:620249

Ontology

Human Disease   ( DOID:0081345 )