rs58013325, LMNA

N. diseases: 3
Disease: Disorder of skeletal muscle ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
0.010 GeneticVariation BEFREE This reveals that the LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death without skeletal myopathy, clinically manifested with early onset, severe symptoms, and poor prognosis. 23793583 2013