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Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India
Debaleena Mukherjee, Adreesh Mukherjee, Subhadeep Gupta, Souvik Dubey, Alak Pandit
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
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/aian.aian_904_22
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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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