| Metadata | |
|---|---|
| ID | DOID:0111221 |
| Name | centronuclear myopathy 6 with fiber-type disproportion |
| Definition | An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/27816943 |
| Xrefs | |
| Synonyms |
CNM6 [EXACT] |
| Parent Relationships |