Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy
0.010 GeneticVariation disease BEFREE It is argued that this rare disease, since the princeps description in 1964 only reported in England (1986) and the U.S.A (1986), is most likely a singular type of mitochondrial encephalopathy: it is associated with Leber's optic atrophy, and the NMR changes observed have been signalled in other mitochondrial encephalomyelopathies, such as Leigh's disease and MELAS. 1880538 1991