myotonia congenita

Summary
Synonym
  • Batten Turner congenital myopathy
  • Thomsen and Becker disease
Definition
A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.
Super Class
muscle tissue disease physical disorder
External Links
Disease Ontology
DOID:2106
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1178 CLC Charcot-Leyden crystal galectin

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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