Document Detail


Neuromuscular disorders of glycogen metabolism.
MedLine Citation:
PMID:  23335027     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Elisabetta Gazzerro; Antoni L Andreu; Claudio Bruno
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Current neurology and neuroscience reports     Volume:  13     ISSN:  1534-6293     ISO Abbreviation:  Curr Neurol Neurosci Rep     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100931790     Medline TA:  Curr Neurol Neurosci Rep     Country:  United States    
Other Details:
Languages:  eng     Pagination:  333     Citation Subset:  IM    
Affiliation:
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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