Details of Disease | DrugMAP

General Information of Disease (ID: DISXXIMR)

Disease Name	Thomsen and Becker disease
Synonyms	Batten-Turner congenital myopathy; myopathy, congenital; myotonia congenita
Definition	A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
Disease Hierarchy	DISI6CLK: Muscular channelopathy DISXXIMR: Thomsen and Becker disease

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	TTUYAF3	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	OT3HPMBV	Supportive	Autosomal dominant	[1]
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References

1	Myotonia Congenita. 2005 Aug 3 [updated 2021 Feb 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.