Term Name:	congenital myopathy 6
Synonyms:	proximal myopathy and ophthalmoplegia
Definition:	A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.
Ontology:	Human Disease [DOID:0080719]   ( DOID:0080719 )