{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T04:13:58Z","timestamp":1788754438983,"version":"build-2803163510"},"reference-count":11,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and\/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C&gt;T point mutation in the mitochondrial DNA in the MT-TL1 gene, which was also present in their oligosymptomatic mother and their mother\u2019s sister, an asymptomatic carrier.<\/jats:p>","DOI":"10.3390\/genes15101289","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T10:00:47Z","timestamp":1727690447000},"page":"1289","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Family Occurrence of an m.3303C&gt;T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with\/without Skeletal Muscle Myopathy"],"prefix":"10.3390","volume":"15","author":[{"given":"Olga","family":"Fa\u0142ek","sequence":"first","affiliation":[{"name":"Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother\u2018s Memorial Hospital\u2014Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0274-1278","authenticated-orcid":false,"given":"Dorota","family":"Wes\u00f3\u0142-Kucharska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases, Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Starostecka","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolic Diseases, Polish Mother\u2018s Memorial Hospital\u2014Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9736-2838","authenticated-orcid":false,"given":"Dariusz","family":"Rokicki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases, Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Fortecka-Piestrzeniewicz","sequence":"additional","affiliation":[{"name":"Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother\u2018s Memorial Hospital\u2014Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2882-5448","authenticated-orcid":false,"given":"\u0141ukasz","family":"K\u0119pczy\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Genetics, Polish Mother\u2018s Memorial Hospital\u2014Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Piekutowska-Abramczuk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1065-7968","authenticated-orcid":false,"given":"El\u017cbieta","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iwona","family":"Maroszy\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother\u2018s Memorial Hospital\u2014Research Institute, 93-338 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1542\/peds.2006-1866","article-title":"Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients with Mitochondrial Diseases","volume":"119","author":"Debray","year":"2007","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"El-Hattab, A.W., and Scaglia, F. (2016). Mitochondrial Cardiomyopathies. Front. Cardiovasc. Med., 3.","DOI":"10.3389\/fcvm.2016.00025"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s00431-018-3292-x","article-title":"Diagnosis, management, and follow-up of mitochondrial disorders in childhood: A personalized medicine in the new era of genome sequence","volume":"178","author":"Coelho","year":"2019","journal-title":"Eur. J. Pediatr."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1136\/archdischild-2016-311370","article-title":"Recognition, investigation and management of mitochondrial disease","volume":"102","author":"Davison","year":"2017","journal-title":"Arch. Dis. Child."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1542\/peds.2004-0718","article-title":"Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients with Mitochondrial Disease","volume":"114","author":"Scaglia","year":"2004","journal-title":"Pediatrics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"602","DOI":"10.3174\/ajnr.A7837","article-title":"MELAS: Phenotype Classification into Classic-versus-Atypical Presentations","volume":"44","author":"Alves","year":"2023","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Fernandes, J., Saudubray, J.M., Van den Berghe, G., and Walter, J.H. (2006). Inborn Metabolic Diseases, Diagnosis and Treatment, Springer Science & Business Media. 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Heart J."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Scholle, L.M., Zierz, S., Mawrin, C., Wickenhauser, C., and Urban, D.L. (2020). Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis. 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