{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:21:34Z","timestamp":1787761294952,"version":"build-2784847793"},"reference-count":6,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Myopathy with extrapyramidal signs (MPXPS) is a rarely reported entity worldwide, manifesting as a muscular dystrophy with movement disorders. It results from mutations in the mitochondrial calcium uptake 1 (\n                      <jats:italic toggle=\"yes\">MICU1<\/jats:italic>\n                      ) gene. We hereby describe a 17-year-old boy who presented with proximal myopathy, calf muscle hypertrophy, and skeletal deformities along with choreiform movements of his upper extremities. Muscle MRI revealed a distinctively early involvement of adductors with sparing of antero-lateral compartment of thigh. This report expands the clinico-radiological presentation and to the best of our knowledge, is the first report of MICU-related MPXPS from India.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_904_22","type":"journal-article","created":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T06:48:10Z","timestamp":1672814890000},"page":"73-75","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs"],"prefix":"10.4103","volume":"26","author":[{"given":"Debaleena","family":"Mukherjee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adreesh","family":"Mukherjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subhadeep","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souvik","family":"Dubey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alak","family":"Pandit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-11-20240828","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/ng.2851","article-title":"Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling","volume":"46","author":"Logan","year":"2014","journal-title":"Nat Genet"},{"key":"R5-11-20240828","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s12881-020-01016-y","article-title":"Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: A case report","volume":"21","author":"Mojbafan","year":"2020","journal-title":"BMC Med Genet"},{"key":"R6-11-20240828","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s40348-021-00116-w","article-title":"Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family","volume":"8","author":"Bitarafan","year":"2021","journal-title":"Mol Cell Pediatr"},{"key":"R7-11-20240828","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/8904_2018_107","article-title":"A middle eastern founder mutation expands the genotypic and phenotypic spectrum of mitochondrial MICU1 deficiency: A report of 13 patients","volume":"43","author":"Musa","year":"2019","journal-title":"JIMD Rep"},{"key":"R8-11-20240828","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1016\/j.celrep.2019.09.063","article-title":"Dysregulation of mitochondrial Ca2+uptake and sarcolemma repair underlie muscle weakness and wasting in patients and mice lacking MICU1","volume":"29","author":"Debattisti","year":"2019","journal-title":"Cell Rep"},{"key":"R10-11-20240828","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/jmd2.12114","article-title":"Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1","volume":"53","author":"Wilton","year":"2020","journal-title":"JIMD Rep"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_904_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:30:54Z","timestamp":1787758254000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_904_22"}},"subtitle":["A Clinico-Radiological Case Report from India"],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_904_22","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2023,1]]}}}