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congenital myopathy 14
Summary
- Definition
- A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time.
- Super Class
- autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081346
- Mondo Disease Ontology
- ORDO
- OMIM
