Condition: Mitochondrial Diseases


rs1555745989 in ATP5F1D gene and Mitochondrial Diseases PMID 29478781 2018 Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.

rs1556424691 in CYTB;ND6;TRNT gene and Mitochondrial Diseases PMID 22638997 2012 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.

PMID 29760464 2018 CO2-sensitive tRNA modification associated with human mitochondrial disease.

PMID 30236074 2018 Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

rs370475970 in GFER;NOXO1 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1554042187 in GFM2 gene and Mitochondrial Diseases PMID 29075935 2017 Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.

rs398124298 in LOC102724808;OPA1 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs111033573 in MRPL43;TWNK gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs863224028 in NOXO1;GFER gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1553877864 in OPA1 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs80356530 in OPA1;LOC102724808 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs772751581 in OXA1L gene and Mitochondrial Diseases PMID 30201738 2018 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

rs1566433812 in OXA1L;LOC105370404 gene and Mitochondrial Diseases PMID 30201738 2018 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

rs113994096 in POLG gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1131691575 in POLG;FANCI gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs113994095 in POLG;MIR6766 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs115079861 in RMND1 gene and Mitochondrial Diseases PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

rs515726199 in RRM2B gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs369227537 in SPG7 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs886037835 in TMEM126B gene and Mitochondrial Diseases PMID 27374774 2016 Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants.

rs200944917 in TOP3A gene and Mitochondrial Diseases PMID 29290614 2018 Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

rs199730889 in TRMT10C gene and Mitochondrial Diseases PMID 27132592 2016 Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

rs199474657 in TRNL1;ND1;ND2 gene and Mitochondrial Diseases PMID 15372523 2004 Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

PMID 11085913 2001 Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

rs1554887213 in TWNK gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs515726180 in UBR5-AS1;RRM2B gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs1365700579 in YARS2 gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.