NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: X-linked centronuclear myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		0.010 Biomarker disease BEFREE Mutations in the protein responsible for X-linked myotubular myopathy (myotubularin, MTM1) also induced NFL abnormalities in these cells. 17973976 2008