autosomal recessive centronuclear myopathy

Summary
Synonym
  • AR-CNM
Definition
A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance.
Super Class
autosomal recessive disease centronuclear myopathy
External Links
Disease Ontology
DOID:0111216
Mondo Disease Ontology
ORDO
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4534 MTM1 myotubularin 1
64419 MTMR14 myotubularin related protein 14
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8NCE2 Myotubularin-related protein 14

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024