centronuclear myopathy X-linked

Term ID

DOID:0111225

Synonyms

• CNMX
• MTM1
• myotubular myopathy 1
• X-linked myotubular myopathy
• XLCNM
• XLMTM

Definition

A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. https://www.ncbi.nlm.nih.gov/pubmed/8640223

References

• GARD:11925
• ICD10CM:G71.220
• MESH:D020914
• NCI:C118781
• OMIM:310400
• ORDO:596
• SNOMEDCT_US_2023_03_01:46804001
• UMLS_CUI:C0410203

Ontology

Human Disease   ( DOID:0111225 )