TRDN, triadin, 10345

N. diseases: 49; N. variants: 20
Disease: Multi-core congenital myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270962
Disease: Multi-core congenital myopathy
Multi-core congenital myopathy 		0.010 Biomarker disease BEFREE In 7 cases with RYR1 mutations (6 CCD, one MmD), RyR1 was depleted from the cores; in contrast, the other proteins of the sarcoplasmic reticulum (calsequestrin, SERCA1/2, and triadin) and the T-tubule (dihydropyridine receptor-alpha1subunit) accumulated within or around the lesions, suggesting an original modification of the Ca-release complex protein arrangement. 17204937 2007