Visualize Submit Comment

Metadata
ID	DOID:0061259
PURL	http://purl.obolibrary.org/obo/DOID_0061259 Copy Copied!
Name	congenital myopathy 28
Definition	A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12. https://pubmed.ncbi.nlm.nih.gov/39531736/
Xrefs	MIM:621433
Synonyms	congenital myopathy 28 with rigid spine [EXACT]
Parent Relationships	is_a congenital myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance