Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 14
DOID:0081346
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
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