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Repository for lectin-assisted multimodality data
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MIRAGE
centronuclear myopathy 2
Summary
- Synonym
-
- CNM2
- Definition
- An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3.
- Super Class
- autosomal recessive centronuclear myopathy
External Links
- Disease Ontology
- DOID:0111220
- Mondo Disease Ontology
- MeSH
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00499 | Myc box-dependent-interacting protein 1 |
