MFN2, mitofusin 2, 9927

N. diseases: 334; N. variants: 75
Disease: Disorder of the optic nerve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.020 Biomarker group BEFREE To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were evaluated. 29063243 2017
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.020 Biomarker group BEFREE Our report expands the spectrum of MFN2-related manifestation because it indicates that visual symptoms of HMSN VI may enter in the differential with acquired or hereditary acute optic neuropathies, and that severe optic neuropathy is not invariably an early manifestation of the disease but may occur as disease progressed. 25957633 2015