NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
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) 		0.010 GeneticVariation group BEFREE We report the identification of an NEFL mutation in a family clinically manifesting congenital myopathy. 25264603 2014