Metadata | |
---|---|
ID | DOID:0111224 |
Name | centronuclear myopathy 4 |
Definition | An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/22818856 |
Xrefs | |
Synonyms |
CNM4 [EXACT] |
Parent Relationships |