{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:11:15Z","timestamp":1780567875430,"version":"3.54.1"},"reference-count":19,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T00:00:00Z","timestamp":1668556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,1,3]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      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.\n                      <jats:italic>MT-TL1<\/jats:italic>\n                      mutations, among which the m.3243A&gt;G mutation is the most frequent, are associated with myopathy, maternal inherited diabetes and deafness, MELAS, cardiomyopathy, and focal segmental glomerulosclerosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Case study:<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>MT-TL1<\/jats:italic>\n                      gene mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Our case demonstrates a systemic mitochondrial disease caused by the heteroplasmic m.3274_3275delAC\n                      <jats:italic>MT-TL1<\/jats:italic>\n                      gene mutation, not yet described in the literature. A mitochondrial disease should be suspected in case of complex multisystem phenotypes, including steroid-resistant nephrotic syndrome with multisystemic involvement.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-221526","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T10:47:14Z","timestamp":1668768434000},"page":"119-123","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A Multisystem Mitochondrial Disease Caused by a Novel\n                    <i>MT-TL1 mtDNA<\/i>\n                    Variant: A Case Report"],"prefix":"10.1177","volume":"10","author":[{"given":"Domenico","family":"Giannese","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Nephrology, Transplant and Dialysis Division, University Hospital of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Montano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piervito","family":"Lopriore","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Nesti","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"LoGerfo","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Adelaide","family":"Caligo","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavio","family":"Dal Canto","sequence":"additional","affiliation":[{"name":"Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianandrea","family":"Pasquinelli","sequence":"additional","affiliation":[{"name":"Department of Experimental, Biotechnology and Methods in Laboratory Medicine, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy"},{"name":"Subcellular Nephro-Vascular Diagnostic Program, Pathology Unit, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo Giovanni","family":"Bonadio","sequence":"additional","affiliation":[{"name":"Department of Translational Research on New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Moriconi","sequence":"additional","affiliation":[{"name":"Department of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelangelo","family":"Mancuso","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,11,16]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00098-3"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-134-9_Part_1-200105010-00008"},{"key":"e_1_3_5_4_2","first-page":"13","article-title":"Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP","author":"Sonney S","year":"2017","unstructured":"SonneyS, LeipzigJ, LottMT, ZhangS, ProcaccioV, WallaceDC, et al. 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Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: On the spectrum of kidney involvement in MELAS syndrome. 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