centronuclear myopathy 5 (Q66084918)
Jump to navigation
Jump to search
autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has material basis in homozygous or compound heterozygous mutation in SPEG on 2q35
- CNM5
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | centronuclear myopathy 5 |
autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has material basis in homozygous or compound heterozygous mutation in SPEG on 2q35 |
|
Statements
1 reference
Identifiers
1 reference
1 reference