| Neuromuscular disorders of glycogen metabolism. | |
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MedLine Citation:
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PMID: 23335027 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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:
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Elisabetta Gazzerro; Antoni L Andreu; Claudio Bruno |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Current neurology and neuroscience reports Volume: 13 ISSN: 1534-6293 ISO Abbreviation: Curr Neurol Neurosci Rep Publication Date: 2013 Mar |
Date Detail:
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Created Date: 2013-01-21 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100931790 Medline TA: Curr Neurol Neurosci Rep Country: United States |
Other Details:
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Languages: eng Pagination: 333 Citation Subset: IM |
Affiliation:
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Center of Myology, Pediatric Neurology Unit, Department of Neuroscience and Rehabilitation, G. Gaslini Institute, Largo G. Gaslini, 5, 16147, Genoa, Italy, elisabettagazzerro@ospedale-gaslini.ge.it. |
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