Disease: Leigh Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. 27761019 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene (MTND4). 24062162 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. 21414825 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE After autopsy, the diagnosis of Leigh syndrome was established; using DNA isolated from skeletal muscle and liver, heteroplasmic (>50%) mitochondrial 11777C>A was detected in the fourth subunit of NADH dehydrogenase enzyme (MTND4) encoding gene, which causes Arg --> Ser replacement. 20502985 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome. 17022785 2006
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 CausalMutation disease CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 CausalMutation disease CLINVAR A novel mtDNA C11777A mutation in Leigh syndrome. 16120329 2003