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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Detalles Bibliográficos
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

Internet

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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