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 |