{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T01:02:40Z","timestamp":1783472560522,"version":"3.55.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T00:00:00Z","timestamp":1755129600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T00:00:00Z","timestamp":1755129600000},"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":[[2026,7]]},"abstract":"\n Introduction<\/jats:title>\n MLASA (myopathy, lactic acidosis and sideroblastic anemia) is a rare, autosomal recessive mitochondrial disorder. Symptom onset typically occurs in childhood and differs considerably in disease severity. Congenital-onset disease is uncommon.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Whole genome sequencing was performed which identified two heterozygous, rare\n YARS2<\/jats:italic>\n (NM_001040436.3) variants\n in trans<\/jats:italic>\n , one of which was novel. The diagnosis was confirmed with muscle biopsy and mitochondrial enzyme activity testing. To compare the clinical phenotype of our patient to those previously described in the literature, we reviewed all\n YARS2<\/jats:italic>\n -related cases in literature to identify age of symptom onset and associated clinical features.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n The maternally-inherited variant, c.948G\u2009>\u2009T, p.(Arg316Ser), was previously reported with MLASA; the paternally-inherited variant, c.917T\u2009>\u2009C, p.(Phe306Ser) has not been previously reported. Muscle biopsy showed non-specific changes, that can be seen with mitochondrial dysfunction. Mitochondrial enzyme activity testing on frozen muscle tissue confirmed reduced complex I, III and IV activities.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n \n In our case report we describe a patient with MLASA, caused by compound heterozygous variants in\n YARS2<\/jats:italic>\n . Our child with congenital-onset disease remains stable at 23 months old. Her stable course differs from two other children with congenital-onset disease who died in the first few days to months after birth. Mitochondrial enzyme activity testing is important to establish pathogenicity of novel variants in patients with this rare and clinically heterogeneous disease.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/22143602251369227","type":"journal-article","created":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T07:14:41Z","timestamp":1755155681000},"page":"802-807","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital-onset MLASA2 from a novel\n YARS2<\/i>\n variant: A literature review"],"prefix":"10.1177","volume":"13","author":[{"given":"Astrid","family":"Eisenk\u00f6lbl","sequence":"first","affiliation":[{"name":"Johannes Kepler University Linz, Kepler University Hospital"},{"name":"Children's Hospital of Eastern Ontario Research Institute"},{"name":"Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute"},{"name":"The Ottawa Hospital"},{"name":"University of Freiburg, Faculty of Medicine"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa T","family":"Carter","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute"},{"name":"Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie E","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario, University of Ottawa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh J","family":"McMillan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute"},{"name":"Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,8,14]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/421530"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(74)90820-1"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550325"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M500216200"},{"key":"e_1_3_2_6_2","first-page":"95","article-title":"A novel homozygous YARS2 mutation in two Italian siblings and a review of literature","volume":"20","author":"Ardissone A","year":"2015","unstructured":"Ardissone A, et al. A novel homozygous YARS2 mutation in two Italian siblings and a review of literature. JIMD Rep 2015; 20: 95\u2013101.","journal-title":"JIMD Rep"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10163471"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.143"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.001"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-193"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.14.1669"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22098"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36065"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.194464"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.4357"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2024.148379"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62755"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.182659"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.06.004"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251369227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602251369227","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251369227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T03:33:19Z","timestamp":1782617599000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602251369227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,14]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1177\/22143602251369227"],"URL":"https:\/\/doi.org\/10.1177\/22143602251369227","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,14]]}}}