| Metadata | |
|---|---|
| ID | DOID:0111223 |
| Name | centronuclear myopathy 1 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/16227997 |
| Xrefs | |
| Synonyms |
CNM1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some progressive weakness has symptom some muscle weakness |