congenital myopathy 6

Term ID

DOID:0080719

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. https://pubmed.ncbi.nlm.nih.gov/24193343/

References

• GARD:9494
• MIM:605637
• ORDO:79091

Ontology

Human Disease   ( DOID:0080719 )