Details of Disease

General Information of Disease (ID: DISPG36V)

Disease Name Myotonia permanens
Definition Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
Disease Hierarchy
DISRO6ZH: Potassium-aggravated myotonia
DISPG36V: Myotonia permanens

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN4A DT7SZIQ 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
SCN4A OT0MYDHC Supportive Autosomal dominant [1]
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References

1 Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 1993 Oct;470:13-22. doi: 10.1113/jphysiol.1993.sp019843.