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


 Department of Neurology, Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India

Correspondence Address:
Alak Pandit,
Department of Neurology, Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.aian_904_22

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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    -  Mukherjee D
    -  Mukherjee A
    -  Gupta S
    -  Dubey S
    -  Pandit A
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