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Metabolic Myopathies

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Neuromuscular Disorders in Clinical Practice

Abstract

In this chapter, we will consider only those inborn errors of glycogen and fatty acid metabolism that cause exclusively or predominantly neuromuscular disorders. Because this is meant to be a practical book, we have subdivided these disorders into two groups according to their typical clinical presentation. Thus, we first consider diseases characterized by dynamic symptoms and then review disorders characterized by static symptoms. Although the mitochondrial myopathies are reviewed in a separate chapter (see Chap. 64), we discuss here some defects of the mitochondrial respiratory chain that are dominated by exercise intolerance, and, sometimes, myoglobinuria. To understand the dynamic versus the static clinical presentation of these disorders, a brief review of muscle metabolism at rest and during exercise is helpful.

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Acknowledgements

Some of the work described was supported by a grant from the Muscular Dystrophy Association. Dr. Paradas is supported by the Consejería de Salud, Junta de Andalucía, Spain.

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Authors and Affiliations

  1. Department of Neurology, Columbia University Medical Center, 4-424B College of Physicians & Surgeons, 630 West 168th Street, New York, NY, 10032, USA

    Salvatore DiMauro MD

  2. Department of Neurology, Columbia University Medical Center, New York, NY, USA

    Hasan Orhan Akman PhD & Carman Paradas MD, PhD

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  1. Salvatore DiMauro MD
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Correspondence to Salvatore DiMauro MD .

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Editors and Affiliations

  1. School of Medicine Department of Neurology, University Hospitals Case Medical Center Case Western Reserve University, Cleveland, Ohio, USA

    Bashar Katirji

  2. Department of Neurology, George Washington University, Washington, District of Columbia, USA

    Henry J. Kaminski

  3. University School of Medicine Department of Neurology, Louis Stokes Cleveland VA Medical Center Case Western Reserve, Cleveland, Ohio, USA

    Robert L. Ruff

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DiMauro, S., Akman, H.O., Paradas, C. (2014). Metabolic Myopathies. In: Katirji, B., Kaminski, H., Ruff, R. (eds) Neuromuscular Disorders in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6567-6_63

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