Salvatore DiMauro, MD
Lucy G. Moses Professor of Neurology
Director, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases
Associate Chair for Laboratory Research and Training
Throughout his career, Dr. DiMauro has kept a focused interest on inborn errors of energy metabolism, recognizing unusual patients through clinical observation, and using both biochemical and molecular approaches to define disease entities.
Thus, although Dr. DiMauro started as a myologist, his studies of mitochondrial diseases have taken him back to the brain. Because the brain is so crucially dependent on oxidative metabolism, mitochondrial dysfunction almost always impairs brain function and often causes mental retardation. His group's interest in the relationship between mitochondrial disorders and mental retardation has been recognized by the National Institute for Child Health and Human Development (NICHD), which supports a Program Project under Dr. DiMauro's direction entitled "Mitochondrial Encephalomyopathies and Mental Retardation".
http://www.columbiamitodiagnostics.org/
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