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Standards Ontologies Notations
congenital structural myopathy

Summary
Definition
A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
Super Class
congenital myopathy physical disorder
External Links
Disease Ontology
DOID:422
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying entries 21 - 23 of 23 in total
Gene ID Gene Symbol Description Source
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
64419 MTMR14 myotubularin related protein 14
79147 FKRP fukutin related protein
Related Glycoprotein
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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