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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
- OMIM
