PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: Slow channel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393934
Disease: Slow channel syndrome
Slow channel syndrome 		0.010 Biomarker disease BEFREE Anticholinesterase therapy is effective in most of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow-channel syndrome, Dok-7 myasthenia, and β(2) -laminin deficiency, and is not useful in CMS due to defects in muscle-specific kinase (MuSK), agrin, and plectin. 21952943 2011