Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India

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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Bibliographic Details
Main Authors: Debaleena Mukherjee, Adreesh Mukherjee, Subhadeep Gupta, Souvik Dubey, Alak Pandit
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
dystrophinopathy
lgmd
micu
mitochondrial disease
mpxps
muscle metabolism
muscular dystrophy
Online Access: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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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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