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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Autores principales: Mukherjee, Debaleena, Mukherjee, Adreesh, Gupta, Subhadeep, Dubey, Souvik, Pandit, Alak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081541/
https://www.ncbi.nlm.nih.gov/pubmed/37034047
http://dx.doi.org/10.4103/aian.aian_904_22
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author Mukherjee, Debaleena
Mukherjee, Adreesh
Gupta, Subhadeep
Dubey, Souvik
Pandit, Alak
author_facet Mukherjee, Debaleena
Mukherjee, Adreesh
Gupta, Subhadeep
Dubey, Souvik
Pandit, Alak
author_sort Mukherjee, Debaleena
collection PubMed
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.
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spelling pubmed-100815412023-04-08 Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India Mukherjee, Debaleena Mukherjee, Adreesh Gupta, Subhadeep Dubey, Souvik Pandit, Alak Ann Indian Acad Neurol Case Report 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. Wolters Kluwer - Medknow 2023 2023-01-04 /pmc/articles/PMC10081541/ /pubmed/37034047 http://dx.doi.org/10.4103/aian.aian_904_22 Text en Copyright: © 2023 Annals of Indian Academy of Neurology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Mukherjee, Debaleena
Mukherjee, Adreesh
Gupta, Subhadeep
Dubey, Souvik
Pandit, Alak
Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081541/
https://www.ncbi.nlm.nih.gov/pubmed/37034047
http://dx.doi.org/10.4103/aian.aian_904_22
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