{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:05:36Z","timestamp":1789448736491,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T00:00:00Z","timestamp":1570320000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic\n                    <jats:italic>DNM1L<\/jats:italic>\n                    mutations cause a mitochondrial disorder with a highly variable clinical phenotype characterized by developmental delay, hypotonia, seizures, microcephaly, poor feeding, ocular abnormalities, and dysarthria. We report the case of an 8\u2010month\u2010old female with autosomal dominant, de novo\n                    <jats:italic>DNM1L<\/jats:italic>\n                    c. 1228G&gt;A (p. E410K) mutation and mitochondrial disorder, septo\u2010optic dysplasia, hypotonia, developmental delay, elevated blood lactate, and severe mitochondrial cardiomyopathy leading to nonischemic congestive heart failure and cardiogenic shock resulting in death. This case suggests that cardiac involvement, previously undescribed, can be a clinically important feature of this syndrome and should be screened for at diagnosis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61371","type":"journal-article","created":{"date-parts":[[2019,10,6]],"date-time":"2019-10-06T05:00:00Z","timestamp":1570338000000},"page":"2486-2489","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Novel and lethal case of cardiac involvement in\n                    <i>DNM1L<\/i>\n                    mitochondrial encephalopathy"],"prefix":"10.1002","volume":"179","author":[{"given":"Daron","family":"Vandeleur","sequence":"first","affiliation":[{"name":"Department of Pathology University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constance V.","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric J.","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Connolly","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3822-693X","authenticated-orcid":false,"given":"Anita J.","family":"Moon\u2010Grady","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001000"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.142430"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpcardio0766"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.10.003"},{"issue":"8","key":"e_1_2_5_6_1","first-page":"170","article-title":"A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy","volume":"170","author":"Fahrner J. A.","year":"2016","journal-title":"American Journal of Medical Genetics"},{"key":"e_1_2_5_7_1","unstructured":"Kniffin C.L. (2011). Encephalopathy due to defective mitochondrial and peroxisomal fission 1; EMPF1.Online Mendelian Inheritance in Man Retrieved fromwww.omim.org\/entry\/614388"},{"key":"e_1_2_5_8_1","unstructured":"U.S National Library of Medicine. (2019a).DNM1LGene: Dynamin 1 like (gene report).Genetics Home Reference. Retrieved fromghr.nlm.nih.gov\/gene\/DNM1L"},{"key":"e_1_2_5_9_1","unstructured":"U.S National Library of Medicine. (2019b). MFF Gene: mitochondrial fission factor (gene report).Genetics Home Reference. Retrieved fromghr.nlm.nih.gov\/gene\/MFF#"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","unstructured":"Sherman P. Hamosh A.(1999). Dynamin 1\u2010likeDNM1L. Online Mendelian Inheritance in Man. Retrieved fromwww.omim.org\/entry\/603850","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G"},{"key":"e_1_2_5_11_1","unstructured":"UniProtKB. (2005). O00429 (DNM1L_HUMAN) [protein knowledgebase]. Retrieved fromwww.uniprot.org\/uniprot\/O00429"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23729"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004152"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61371","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61371","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61371","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T06:50:45Z","timestamp":1693723845000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61371"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,6]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1002\/ajmg.a.61371"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61371","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,6]]},"assertion":[{"value":"2019-05-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}