| Term Name: | adult-onset myofibrillar myopathy 2A |
|---|---|
| Synonyms: | alpha-b crystallinopathy, myofibrillar myopathy 2 |
| Definition: | A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. |
| Ontology: | Human Disease [DOID:0080093] ( DOID:0080093 ) |