Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 6
DOID:0080719
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myopathy 6

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.
Synonyms
  • inclusion body myopathy 3
  • proximal myopathy and ophthalmoplegia
Cross References
Parent Terms
Child Terms
None
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