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...
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: | |
Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=1;spage=73;epage=75;aulast=Mukherjee |
Similar Items
-
MICU1- Related myopathy with extrapyramidal signs
by: Debaleena Mukherjee, et al.
Published: (2023-01-01) -
Sarcotubular Myopathy Due to Novel <i>TRIM32</i> Mutation in Association with Multiple Sclerosis
by: Margarita Marchuk, et al.
Published: (2021-07-01) -
Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
by: Cinthya J. Zepeda‐Mendoza, et al.
Published: (2022-07-01) -
Molecular targets to treat muscular dystrophies
by: Jochen Kinter, et al.
Published: (2014-02-01) -
Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients
by: Mirko Signorelli, et al.
Published: (2021-04-01)