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Novel Homozygous MPV-17 Mutation Resulting in Mitochondrial Depletion Syndrome (MDS) Presenting as Peripheral Neuropathy, Leukoencephalopathy, Chronic Liver Disease and Pancreatitis

Author:S, Jayaram   Nair, Pradeep P   Wadwekar, Vaibhav   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Spinal Muscular Atrophy and Hereditary Neuropathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.016  

Author Institution:JIPMER, Pondicherry, Pondicherry, India  JIPMER, Puducherry, India  Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India