Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India
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 (MICU1) gene. We hereby describe a 17-year-old boy who presented with proximal myopathy, calf...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=1;spage=73;epage=75;aulast=Mukherjee |
| _version_ | 1797905010038669312 |
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| author | Debaleena Mukherjee Adreesh Mukherjee Subhadeep Gupta Souvik Dubey Alak Pandit |
| author_facet | Debaleena Mukherjee Adreesh Mukherjee Subhadeep Gupta Souvik Dubey Alak Pandit |
| author_sort | Debaleena Mukherjee |
| collection | DOAJ |
| description | 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 (MICU1) 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. |
| first_indexed | 2024-04-10T09:58:12Z |
| format | Article |
| id | doaj.art-d767ba1feda24c2394ce30ad9cba1b65 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-04-10T09:58:12Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-d767ba1feda24c2394ce30ad9cba1b652023-02-16T12:01:34ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492023-01-01261737510.4103/aian.aian_904_22Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from IndiaDebaleena MukherjeeAdreesh MukherjeeSubhadeep GuptaSouvik DubeyAlak PanditMyopathy 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 (MICU1) 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.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=1;spage=73;epage=75;aulast=Mukherjeedystrophinopathylgmdmicumitochondrial diseasempxpsmuscle metabolismmuscular dystrophy |
| spellingShingle | Debaleena Mukherjee Adreesh Mukherjee Subhadeep Gupta Souvik Dubey Alak Pandit Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India Annals of Indian Academy of Neurology dystrophinopathy lgmd micu mitochondrial disease mpxps muscle metabolism muscular dystrophy |
| title | Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India |
| title_full | Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India |
| title_fullStr | Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India |
| title_full_unstemmed | Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India |
| title_short | Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India |
| title_sort | mitochondrial calcium uptake 1 micu1 gene related myopathy with extrapyramidal signs a clinico radiological case report from india |
| topic | dystrophinopathy lgmd micu mitochondrial disease mpxps muscle metabolism muscular dystrophy |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=1;spage=73;epage=75;aulast=Mukherjee |
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