centronuclear myopathy 6 with fiber-type disproportion (Q66084917)
Jump to navigation
Jump to search
A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has material basis in homozygous or compound heterozygous mutation in ZAK on 2q31.1.
- CNM6
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | centronuclear myopathy 6 with fiber-type disproportion |
A congenital fiber-type disproportion characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has material basis in homozygous or compound heterozygous mutation in ZAK on 2q31.1. |
|
Statements
1 reference
Identifiers
1 reference
1 reference