| Term Name: | centronuclear myopathy 1 |
|---|---|
| Synonyms: | CNM1 |
| Definition: | An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. |
| Ontology: | Human Disease [DOID:0111223] ( DOID:0111223 ) |