{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(1)"],"submitter":["Giannese D"],"pubmed_abstract":["<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 t"],"journal":["Journal of neuromuscular diseases"],"pagination":["119-123"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9881017"],"repository":["biostudies-literature"],"pubmed_title":["A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report."],"pmcid":["PMC9881017"],"pubmed_authors":["Pasquinelli G","Siciliano G","Montano V","Moriconi D","Dal Canto F","Bonadio AG","Giannese D","LoGerfo A","Caligo MA","Lopriore P","Nesti C","Mancuso M"],"additional_accession":[]},"is_claimable":false,"name":"A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.","description":"<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 t","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-18T23:27:23.506Z","creation":"2025-04-07T11:01:26.651Z"},"accession":"S-EPMC9881017","cross_references":{"pubmed":["36404555"],"doi":["10.3233/JND-221526"]}}