| Term Name: | Bethlem myopathy 1C |
|---|---|
| Synonyms: | |
| Definition: | A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37. |
| Ontology: | Human Disease [DOID:0061200] ( DOID:0061200 ) |