congenital myopathy 14 (DOID:0081346)
Alliance: disease page
Alt IDs: OMIM:618414, ORDO:544602
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.