NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Bilateral foot drop ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3807697
Disease: Bilateral foot drop
Bilateral foot drop 		0.010 GeneticVariation disease BEFREE We describe 3 young patients presenting congenital core-rod myopathy with bilateral foot-drop associated with autosomal recessive nebulin gene (NEB) mutations detected by exome sequencing. 26403434 2015