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THE MUSCULAR DYSTROPHIES
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skeldystrophie mit fruhzeitigen Kontrakturen und Herzrhythmusstorungen Humangenetik 16:181, 1972 SANTAVUORI P, SOMER H, SAINIO A, et al: Muscle-eye-brain disease (MEB) Brain Dev 11:147, 1989 SEITZ D: Zur nosologischen Stellung des sogenannten scapulo-peronealen Syndroms Dtsch Z Nervenheilkd 175:547, 1957 SPEER MC, YAMAOKA LH, GILCHRIST JH, et al: Con rmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q Am J Hum Genet 50: 1211, 1992 STEINERT TH: Uber das klinische und anatomische Bild des Muskelschwunds der Myotoniker Dtsch Z Nervenheilkd 37:58, 1909 SWASH M, HEATHFIELD KWG: Quadriceps myopathy: A variant of the limb-girdle dystrophy syndrome J Neurol Neurosurg Psychiatry 46:355, 1983 TAWIL R, FIGLEWICZ DA, GRIGGS RC, et al: Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis Ann Neurol 43:279, 1998 THOMAS PK, CALNE B, ELLIOTT CF: X-linked scapuloperoneal syndrome J Neurol 35:298, 1972 THOMAS PK, SCHOTT GD, MORGAN-HUGHES JA: Adult onset scapuloperoneal myopathy J Neurol Neurosurg Psychiatry 38:1008, 1975 TOME FMS, EVANGELISTA T, LECLERC A, et al: Congenital muscular dystrophy with merosin de ciency CR Acad Sci 317: 351, 1994 TYLER FH, STEPHENS FE: Studies in disorders of muscle: II Clinical manifestations and inheritance of facioscapulohumeral dystrophy in large family Ann Intern Med 32:640, 1950 UDD B, PARTANEN J, HALONEN P, et al: Tibial muscular dystrophy Late adult-onset distal myopathy in Finnish patients Arch Neurol 50:604, 1993 VAN DER DOES DE WILLEBOIS AEM, BETHLEM J, MEYER AEFH, SI-
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MONS AJR: Distal myopathy with onset in early infancy Neurology 18: 383, 1968 VAN DER KOOI AJ, LEDDERHOF TM, DE VOOGT WG, et al: A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement Ann Neurol 39:363, 1996 VAN DER KOOI AJ, VAN MEEGAN M, LEDDERHOF TM, et al: Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD 1B) to chromosome 1q11-21 Am J Hum Genet 60:891, 1997 VASSELLA F, MUMENTHALER M, ROSSI E, et al: Congenital muscular dystrophy Dtsch Z Nervenheilkd 190:349, 1967 VICTOR M, HAYES R, ADAMS RD: Oculopharyngeal muscular dystrophy: A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids N Engl J Med 267:1267, 1962 VIGNOS PJ: Physical models of rehabilitation in neuromuscular disease Muscle Nerve 6:323, 1983 WALTER MC, LOCHMULLER H, REILICH P, et al: Creatine monohydrate in muscular dystrophies A double-blind, placebo-controlled clinical study Neurology 54:1848, 2000 WALTON JN, KARPATI G, HILTON-JONES D (eds): Disorders of Voluntary Muscle, 6th ed Edinburgh, Churchill Livingstone, 1994 WALTON JN, NATTRASS FS: On the classi cation, natural history and treatment of myopathies Brain 77:169, 1954 WELANDER L: Myopathia distalis tarda hereditaria Acta Med Scand 141 (suppl 265):1, 1951 WILHELMSEN KC, BLAKE DM, LYNCH T, et al: Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy Ann Neurol 39:507, 1996 WOHLFART G, FEX J, ELIASSON S: Hereditary proximal spinal muscle atrophy simulating progressive muscular dystrophy Acta Psychiatr Neurol 30:395, 1955
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THE METABOLIC AND TOXIC MYOPATHIES
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Three classes of metabolic disease of muscle are recognized one of which is traceable to a primary, or hereditary, metabolic abnormality of the muscle itself; another in which the myopathy is secondary to a disorder of endocrine function, ie, to disease of the thyroid, parathyroid, pituitary, or adrenal gland; and a third group, due to a large variety of myotoxic drugs and other chemical agents The latter two groups are relatively common and more likely to come initially to the attention of the internist rather than the neurologist The hereditary metabolic myopathies are of special interest because they reveal certain aspects of the complex chemistry of muscle bers Indeed, each year brings to light some new genetically determined enzymopathy of muscle As a consequence, a number of diseases formerly classi ed as dystrophic or degenerative, are consistently being added to the enlarging list of metabolic myopathies There are now so many of them that only the most representative can be presented in a textbook of neurology Complete accounts of this subject can be found in the section on metabolic disorders in Engel and Franzini-Armstrong (eds), Myology, and in the chapter by DiMauro and colleagues in the Handbook of Clinical Neurology
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anaerobic muscle metabolism; these mechanisms are considered in Chap 37 in relation to the mitochondrial diseases, and are referred to here only brie y It follows from these observations that the ef ciency and endurance of muscle depend on a constant supply of glycogen, glucose, and fatty acids and on the adequacy of the enzymes committed to their metabolism Biochemical derangements in their metabolism give rise to a large number of muscle disorders, the most important of which are elaborated in the following pages
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