biostudies-literatureUnknown10(1)Giannese D<h4>Background</h4>Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis.<h4>Case study</h4>Here we report the case of an Italian 49-years old female presenting with encephalomyopathy, chronic proteinuric kidney disease and a new heteroplasmic m.3274_3275delAC MT-TL1 gene mutation.<h4>Conclusions</h4>Our case demonstrates a systemic mitochondrial disease caused by tJournal of neuromuscular diseases119-123https://www.ebi.ac.uk/biostudies/studies/S-EPMC9881017biostudies-literatureA Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.PMC9881017Pasquinelli GSiciliano GMontano VMoriconi DDal Canto FBonadio AGGiannese DLoGerfo ACaligo MALopriore PNesti CMancuso MfalseA Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.<h4>Background</h4>Mitochondrial tRNA (MTT) genes are hotspot for mitochondrial DNA mutation and are responsible of half mitochondrial disease. MTT mutations are associated with a broad spectrum of phenotype often with complex multisystem involvement and complex genotype-phenotype correlations. MT-TL1 mutations, among which the m.3243A>G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis.<h4>Case study</h4>Here we report the case of an Italian 49-years old female presenting with encephalomyopathy, chronic proteinuric kidney disease and a new heteroplasmic m.3274_3275delAC MT-TL1 gene mutation.<h4>Conclusions</h4>Our case demonstrates a systemic mitochondrial disease caused by t2023-01-01T00:00:00Z20232025-04-18T23:27:23.506Z2025-04-07T11:01:26.651ZS-EPMC98810173640455510.3233/JND-221526