LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Congenital myopathy (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		0.200 Biomarker group MGD DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. 22090424 2012