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Metadata
ID	DOID:0081346
Name	congenital myopathy 14
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. https://pubmed.ncbi.nlm.nih.gov/30215711/
Xrefs	MIM:618414 ORDO:544602
Subsets	DO_rare_slim
Parent Relationships	is_a congenital myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance