Details of Disease

General Information of Disease (ID: DISKW2XB)

Disease Name Rippling muscle disease
Definition A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch
Disease Hierarchy
DISOWG27: Myopathy
DISKW2XB: Rippling muscle disease
Disease Identifiers
MONDO ID
MONDO_0011634
MESH ID
C535686
UMLS CUI
C1853698
MedGen ID
342944
SNOMED CT ID
709281006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDC42BPA TT5Z0EF Definitive Biomarker [1]
DYSF TTA7MXQ Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAV3 OTWSFDB4 Disputed Biomarker [3]
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References

1 Cloning and chromosomal location of a novel member of the myotonic dystrophy family of protein kinases.J Biol Chem. 1997 Apr 11;272(15):10013-20. doi: 10.1074/jbc.272.15.10013.
2 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501.
3 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24.