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Metadata
ID DOID:0111225
Name centronuclear myopathy X-linked
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
Xrefs

GARD:11925

MESH:D020914

NCI:C118781

OMIM:310400

ORDO:596

SNOMEDCT_US_2020_03_01:46804001

UMLS_CUI:C0410203

Synonyms

CNMX [EXACT]

MTM1 [EXACT]

myotubular myopathy 1 [EXACT]

X-linked myotubular myopathy [EXACT]

XLCNM [EXACT]

XLMTM [EXACT]

Parent Relationships

is_a centronuclear myopathy

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