title: Biochemistry and molecular genetics of muscle diseases.
abstract: The inherited skeletal muscle diseases form a highly heterogeneous group of disorders covering single enzyme defects, complex metabolic disorders, storage diseases, dystrophies and malignant hyperthermia. Whereas these myopathies may be caused by a large number of different biochemical and genetic defects their clinical presentation by contrast is relatively monotonous. with only a few specific findings pointing to a particular molecular defect. This review of the biochemical and molecular genetic basis of these diseases concentrates on 1) disorders in fuel utilization and energy production. 2) disorders in structural integrity or mechanical function, and 3) disorders in contractility and electrophysiological properties of the muscle cell. The authors address the questions of organ-specificity and of a possible relationship between clinical, biochemical, and genetic heterogeneity of metabolic defects, and also try to present the current state of chromosome mapping for such disorders.
authors.affiliation: Arzt für Laboratoriumsmedizin, Kinderklinik der Universität, Dr. von Haunerschen Kinderspital, München.
authors.forename: T
authors.initials: T
authors.lastname: Deufel
authors.forename: K D
authors.initials: KD
authors.lastname: Gerbitz
mesh_terms: D001669:Biochemical Phenomena; D001671:Biochemistry; D001696:Biomechanical Phenomena; D004594:Electrophysiology; D004734:Energy Metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism; D008967:Molecular Biology; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology