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
Disease Ontology
DOID:2106
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
4619 MYH1 myosin heavy chain 1
4625 MYH7 myosin heavy chain 7
22989 MYH15 myosin heavy chain 15
Displaying all 8 entries
Gene ID Gene Symbol Description Source
17879 Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult
17882 Myh2 myosin, heavy polypeptide 2, skeletal muscle, adult
17883 Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic
17884 Myh4 myosin, heavy polypeptide 4, skeletal muscle
17888 Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha
140781 Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta
544791 Myh13 myosin, heavy polypeptide 13, skeletal muscle
668940 Myh7b myosin, heavy chain 7B, cardiac muscle, beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
174821 clh-1 CBS domain-containing protein

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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: December 9, 2024