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Abstract #0082

Disrupted structural connectome in Duchenne’s muscular dystrophy: Classifying and subtyping based on Dp140 dystrophin isoform

Apurva Shah1, Apoorva Safai1, Veeramani Preethish Kumar2, Atchayaram Nalini2, Jitender Saini3, and Madhura Ingalhalikar1
1Symbiosis Center for Medical Image Analysis, Symbiosis International University, Pune, India, 2Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India, 3Department of Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India

Duchenne Muscular Dystrophy (DMD) is a genetic neuromuscular disorder, characterized by muscle weakness and cognitive deficits due to mutation in DMD gene. Dp140+ and Dp140- are DMD subtypes derived based on promoter site of isoform Dp140 in DMD gene. Our work investigated the structural connectivity in DMD and its sub-types and demonstrated widespread and global reduction in connectivity across whole brain in DMD compared to controls. Higher dysconnectivity was observed in Dp140- subtype especially in cerebellar and frontal regions compared to Dp140+ implying that the promotor site of Dp140 isoform plays a crucial role in terms of impaired information processing.

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