{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T23:20:33Z","timestamp":1793748033213,"version":"4.6.1"},"reference-count":14,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"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":[[2024,11]]},"abstract":"<jats:p>\n            Mitochondrial Calcium Uptake 1 (\n            <jats:italic>MICU1<\/jats:italic>\n            ) is an important component of mitochondrial calcium channel regulator. Mutations in\n            <jats:italic>MICU1<\/jats:italic>\n            result in a rare syndrome of myopathy with extrapyramidal features. Here we report a rare case of\n            <jats:italic>MICU1<\/jats:italic>\n            related myopathy from India. A 23 years old male presented with 10 years history of proximal muscle weakness with exertional myalgia and fatigue. Examination showed facial dysmorphism with facial weakness and mildly reduced visual acuity. Limb girdle pattern of weakness with hypoactive tendon reflexes were noted without extrapyramidal signs. He had elevated serum creatine level of 1542 IU\/L. Muscle MRI had novel findings of selective fatty infiltration of hamstrings, medial gastrocnemius and soleus. Muscle biopsy showed myopathic with secondary neurogenic changes along with few COX deficient fibres. Genetic analysis showed compound heterozygous pathogenic variants in\n            <jats:italic>MICU1<\/jats:italic>\n            gene at intron 9 (c.1072-1 G\u2009&gt;\u2009C) \u2013 splice site variant and exon 5 (c.513T\u2009&gt;\u2009A) \u2013 stop gained variant, both resulting in loss of function of the protein. The variants were segregating in unaffected parents in heterozygous state with variant c.1072-1 G\u2009&gt;\u2009C in the unaffected father and variant c.513T\u2009&gt;\u2009A (p. Tyr171*) in the unaffected mother confirming the diagnosis. This report highlights the phenotype of limb girdle weakness with facial dysmorphism and optic atrophy expanding the spectrum of MICU1 related syndrome with novel MRI muscle and histopathological findings.\n          <\/jats:p>","DOI":"10.1177\/22143602241288400","type":"journal-article","created":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T07:33:36Z","timestamp":1738308816000},"page":"1295-1299","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["MICU1 related myopathy \u2013 a rare report from India"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8362-7380","authenticated-orcid":false,"given":"Dipti","family":"Baskar","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suma Reddy","family":"Ganji","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneesha","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3401-449X","authenticated-orcid":false,"given":"Bevinahalli N.","family":"Nandeesh","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sai Bhargava","family":"Sanka","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-7135-520X","authenticated-orcid":false,"given":"Kosha","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ananthapadmanabha","family":"Kotambail","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gautham","family":"Arunachal","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neurosciences, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay Kumar","family":"Boddu","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saraswati","family":"Nashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0629-9221","authenticated-orcid":false,"given":"Seena","family":"Vengalil","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neuro Sciences (NIMHANS), India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/1756-6606-5-2"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm4039"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2013.04.020"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40348-021-00116-w"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.4103\/aian.aian_904_22"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.1008937"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2851"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-021-00658-1"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61126"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2018_107"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000059"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01016-y"},{"key":"e_1_3_4_15_2","article-title":"Insights into the genesis of a brain and muscle disorder caused by a novel mutation in MICU1","volume":"27","author":"Roos A","year":"2017","unstructured":"Roos A, Topf A, Phan V, et al. Insights into the genesis of a brain and muscle disorder caused by a novel mutation in MICU1. 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