Molecular genetics in basic myology: A rapidly evolving perspective
Dr. Hansell Stedman MD
Department of Human Genetics, University of Pennsylvania School of Medicine, and the Department of Surgery, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania
Search for more papers by this authorCorresponding Author
Dr. Satyapriya Sarkar PhD
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, and the Department of Muscle Research, Boston Biomedical Research Institute, Boston Massachusetts
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, 136 Harrison Ave., Boston, MA 02111Search for more papers by this authorDr. Hansell Stedman MD
Department of Human Genetics, University of Pennsylvania School of Medicine, and the Department of Surgery, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania
Search for more papers by this authorCorresponding Author
Dr. Satyapriya Sarkar PhD
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, and the Department of Muscle Research, Boston Biomedical Research Institute, Boston Massachusetts
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, 136 Harrison Ave., Boston, MA 02111Search for more papers by this authorAbstract
Myology has greatly benefited from the recent unification of concepts in molecular, cellular, and developmental biology. The interplay between intrinsic and extrensic factors in determining the physiologic characteristics of individual myofibers has emerged as an important theme. Of special note is the manner in which the study of contractile protein gene structure and expression has contributed to our understanding of the development and ultimate plasticity of the contractile apparatus. As mechanistic models of normal myogenesis achieve increasing sophistication, the opportunities for understanding the pathogenesis of progressive muscle disfunction improve. In this article we review recent progress in basic myology which will be of interest to clinicians studying the heritable neuromuscular disorders.
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