congenital myopathy 14

Term ID

DOID:0081346

Synonyms

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/

References

• MIM:618414
• ORDO:544602

Ontology

Human Disease   ( DOID:0081346 )