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Human Disease

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
Ontology
Human Disease   ( DOID:0081346 )
Relationships
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Genes Involved
Zebrafish Models