{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T17:32:38Z","timestamp":1786642358889,"version":"build-2736575974"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T00:00:00Z","timestamp":1786320000000},"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":["J Child Neurol"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>TANGO2-related disorder (TDD) is a rare autosomal recessive condition characterized by episodic metabolic crises, rhabdomyolysis, encephalopathy, and life-threatening cardiac arrhythmias, with marked phenotypic variability that often contributes to delayed diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report 2 sisters homozygous for the recurrent\n                      <jats:italic toggle=\"yes\">TANGO2<\/jats:italic>\n                      variant c.460G&gt;A (p.Gly154Arg), identified in a family of Hispanic\/Latino ancestry, who exhibited divergent clinical presentations. The older sibling presented with developmental delay and recurrent fasting\u2013induced hypoglycemia associated with hyperCKemia and episodic weakness, whereas the younger sibling showed early hypotonia, ataxia, behavioral dysregulation, and subclinical hypothyroidism without initial metabolic crises. Brain magnetic resonance imaging studies were normal in both patients. In both cases, routine metabolic testing was largely unremarkable between episodes, and early manifestations were interpreted within isolated subspecialty frameworks, delaying diagnostic integration.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These cases highlight intrafamilial variability within the recognized TDD spectrum and underscore the importance of early recognition of neurologic and endocrine features as potential red flags. Prompt molecular diagnosis is essential to guide anticipatory management and reduce morbidity and mortality.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738261472512","type":"journal-article","created":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T12:21:20Z","timestamp":1786364480000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-2727-7602","authenticated-orcid":false,"given":"Diego Armando","family":"N\u00e1jera-Egu\u00eda","sequence":"first","affiliation":[{"name":"Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estefan\u00eda","family":"Villarreal-Garza","sequence":"additional","affiliation":[{"name":"Department of Neurology, Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey, Nuevo Le\u00f3n, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura Elia","family":"Mart\u00ednez-de-Villarreal","sequence":"additional","affiliation":[{"name":"Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo R.","family":"Rodr\u00edguez-Rivera","sequence":"additional","affiliation":[{"name":"Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Arenas-Estala","sequence":"additional","affiliation":[{"name":"Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciela Arel\u00ed","family":"L\u00f3pez-Uriarte","sequence":"additional","affiliation":[{"name":"Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisol","family":"Ibarra-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Facultad de Medicina y Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez,\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,10]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.12.008"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0137-y"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12314"},{"key":"e_1_3_3_5_2","volume-title":"GeneReviews\u00ae","author":"Miyake CY","year":"2018","unstructured":"Miyake CY, Burrage L, Glinton K, et al. TANGO2 deficiency. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews\u00ae. University of Washington, Seattle; 2018."},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12312"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.050662"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.020"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2022.05.009"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1155\/2024\/9911781"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12585"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63938"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261472512","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738261472512","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261472512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T16:49:47Z","timestamp":1786639787000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738261472512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,10]]},"references-count":11,"alternative-id":["10.1177\/08830738261472512"],"URL":"https:\/\/doi.org\/10.1177\/08830738261472512","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,10]]},"article-number":"08830738261472512"}}