| Term Name: | congenital myopathy 27 |
|---|---|
| Synonyms: | |
| Definition: | A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11. |
| Ontology: | Human Disease [DOID:0061258] ( DOID:0061258 ) |