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The H. Houston Meritt Center for Neuromuscular Disorders Muscle Disease Molecular

Dr. Eduardo Bonilla, eb19@columbia.edu
Research involving the ultrastructure of membrane systems in normal and diseased human muscle. Procedures utilized involve transmission electron microscopy, immunocytochemistry, and in situ hybridization.

Dr. Mercy Davidson, mmd2@columbia.edu
Morphological, biochemical, molecular genetic and electrophysiological analyses of mitrochondrial encephalomyopathies using transmitochondrial cybrids, skeletal myoblasts, cardiomyocytes and neuronal cells. Studies of tissue-specific effects of mutations associated with these diseases on normal development and function; and cell culture models for devising potential therapeutic strategies.

Dr. Salvatore DiMauro, sd12@columbia.edu
Biochemical and DNA investigations of human metabolic myopathies, including disorders of glycogen metabolism, lipid metabolism, and mitochondrial function.

Dr. Michio Hirano, mh29@columbia.edu
Molecular biology of neuromuscular disorders. Positional cloning techniques are applied to autosomal disorders affecting the mitochondrial genome. Investigations of mutations of mitochondrial DNA in human cardiomyopathies.

Dr. Eric A. Schon, eas3@columbia.edu
Molecular genetic studies of neuromuscular disorders. Current work includes analysis of respiratory chain genes (cytochrome c oxidase) mutations of mitochondrial DNA in human disease, and in vitro gene therapy.