Term Name:	congenital myopathy 28
Synonyms:	congenital myopathy 28 with rigid spine
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.
Ontology:	Human Disease [DOID:0061259]   ( DOID:0061259 )