TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
Disease: Myocardial Diseases, Secondary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		0.310 GeneticVariation group BEFREE Here, we report the delayed appearance of 3-MGA-uria, between 6 and 18 months in three patients (out of 100 childhood onset cardiomyopathy) with neonatal onset cardiomyopathy, secondary to TMEM70 mutations and TAZ mutations (Barth syndrome), in whom extensive metabolic investigations, performed in the first weeks of life, did not display 3-MGA-uria. 31729175 2020
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary 		0.310 Biomarker group CTD_human TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008