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Neuromuscular Disorders of Glycogen Metabolism

  • Nerve and Muscle (M Hirano and LH Weimer, Section Editors)
  • Published:
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Abstract

Disorders of glycogen metabolism are inborn errors of energy homeostasis affecting primarily skeletal muscle, heart, liver, and, less frequently, the central nervous system. These rare diseases are quite variable in age of onset, symptoms, morbidity, and mortality. This review provides an update on disorders of glycogen metabolism affecting skeletal muscle exclusively or predominantly. From a pathogenetic perspective, we classify these diseases as primary, if the defective enzyme is directly involved in glycogen/glucose metabolism, or secondary, if the genetic mutation affects proteins which indirectly regulate glycogen or glucose processing. In addition to summarizing the most recent clinical reports in this field, we briefly describe animal models of human glycogen disorders. These experimental models are greatly improving the understanding of the pathogenetic mechanisms underlying the muscle degenerative process associated to these diseases and provide in vivo platforms to test new therapeutic strategies.

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Authors and Affiliations

  1. Center of Myology, Pediatric Neurology Unit, Department of Neuroscience and Rehabilitation, G. Gaslini Institute, Largo G. Gaslini, 5, 16147, Genoa, Italy

    Elisabetta Gazzerro & Claudio Bruno

  2. Laboratori de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d’Hebron, Institut de Recerca (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain

    Antoni L. Andreu

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  1. Elisabetta Gazzerro
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  2. Antoni L. Andreu
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  3. Claudio Bruno
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Correspondence to Claudio Bruno.

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Gazzerro, E., Andreu, A.L. & Bruno, C. Neuromuscular Disorders of Glycogen Metabolism. Curr Neurol Neurosci Rep 13, 333 (2013). https://doi.org/10.1007/s11910-012-0333-0

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