centronuclear myopathy 2

Term ID

DOID:0111220

Synonyms

• CNM2

Definition

An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. https://www.ncbi.nlm.nih.gov/pubmed/17676042

References

• MESH:C562934
• OMIM:255200
• SNOMEDCT_US_2023_03_01:240081004
• UMLS_CUI:C0410204

Ontology

Human Disease   ( DOID:0111220 )