{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T10:03:19Z","timestamp":1790071399627,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:00:00Z","timestamp":1778544000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:00:00Z","timestamp":1778544000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Variants in AFG3\u2010Like Matrix AAA Peptidase, Subunit 2 (\n                      <jats:italic>AFG3L2<\/jats:italic>\n                      ) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in\n                      <jats:italic>AFG3L2<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Cases<\/jats:title>\n                    <jats:p>\n                      A 3\u2010year\u2010old girl presented with global developmental delay, vision disturbances and frequent falls. She developed choreoathetosis, feeding difficulty and sleep disturbances from 3.5\u2009years of age. Developmental regression, and optic atrophy were identified. An 11\u2010year\u2010old girl presented with left foot dystonia and tremulousness at 2\u2009years of age which later progressed to developmental regression and generalized dystonia. Bilateral optic disc pallor was observed. In contrast, spinocerebellar ataxia 28 phenotype with variable expressivity was observed in adult patients with inherited heterozygous variant in\n                      <jats:italic>AFG3L2<\/jats:italic>\n                      gene. Treatment with levodopa offered variable clinical benefits.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our report emphasizes phenotypic heterogeneity in children and adults with heterozygous variant in\n                      <jats:italic>AFG3L2<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70643","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:49:41Z","timestamp":1778636981000},"page":"2250-2258","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic Exploration in Patients with Heterozygous Variant in\n                    <scp>\n                      <i>AFG3L2<\/i>\n                    <\/scp>\n                    Gene: A Case\u2010Series and Literature Review"],"prefix":"10.1002","volume":"13","author":[{"given":"Sangeetha","family":"Yoganathan","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Tochen","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5098-3311","authenticated-orcid":false,"given":"Jacky","family":"Ganguly","sequence":"additional","affiliation":[{"name":"Institute of Neurosciences  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayoni Roy","family":"Chowdhury","sequence":"additional","affiliation":[{"name":"Institute of Neurosciences  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haya S","family":"AlFaris","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivek","family":"Pai","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"LeBlanc\u2010Millar","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4162-2537","authenticated-orcid":false,"given":"Sara","family":"Breitbart","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hrishikesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Institute of Neurosciences  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manohar","family":"Shroff","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arun","family":"Reginald","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children  Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Fasano","sequence":"additional","affiliation":[{"name":"Edmond J. 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