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centronuclear myopathy 5
Summary
- Synonym
-
- CNM5
- Definition
- An 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.
- Super Class
- autosomal recessive centronuclear myopathy
External Links
- Disease Ontology
- DOID:0111222
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q15772 | Striated muscle preferentially expressed protein kinase |
