TMEM126B, transmembrane protein 126B, 55863

N. diseases: 56; N. variants: 4
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 GeneticVariation group BEFREE 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. 27374774 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 CausalMutation group CLINVAR Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016