Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456276
Disease: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome) 		0.010 GeneticVariation disease BEFREE The phenotypes & genotypes included Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes (MELAS) & m.3243A>G mutation (n = 10), Myoclonic Epilepsy Ragged Red Fiber syndrome (MERRF) & m.8344A>G mutation (n = 4), Chronic Progressive External Ophthalmoplegia plus &POLG1 mutation (CPEO, n = 6), episodic neuroregression due to nuclear mutations (n = 6; NDUFV1 (n = 3), NDUFA1, NDUFS2, MPV17-1 one each), and one patient with infantile basal ganglia stroke syndrome, mineralizing angiopathy &MT-ND5 mutations. 29272804 2018