NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085684
Disease: Foot Drop
Foot Drop
0.010 GeneticVariation disease BEFREE This report illustrates that core-rod congenital myopathy with foot-drop is frequently associated with NEB gene mutations and should be considered in the differential diagnosis of early onset distal myopathies. 26403434 2015