NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Distal Muscular Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 GeneticVariation group 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
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 GeneticVariation group BEFREE Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing. 23443021 2013
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.030 GeneticVariation group BEFREE We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. 21724397 2011