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Inborn Errors of Energy Metabolism Associated with Myopathies
Joint Authors
Illsinger, Sabine
Steuerwald, Ulrike
Das, Anibh M.
Source
Issue
Vol. 2010, Issue 2010 (31 Dec. 2009), pp.1-19, 19 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-04-07
Country of Publication
Egypt
No. of Pages
19
Main Subjects
Abstract EN
Inherited neuromuscular disorders affect approximately one in 3,500 children.
Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well.
Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria.
In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies).
The diagnostic work-up and therapeutic options in these disorders are discussed.
American Psychological Association (APA)
Das, Anibh M.& Steuerwald, Ulrike& Illsinger, Sabine. 2010. Inborn Errors of Energy Metabolism Associated with Myopathies. BioMed Research International،Vol. 2010, no. 2010, pp.1-19.
https://search.emarefa.net/detail/BIM-988867
Modern Language Association (MLA)
Das, Anibh M.…[et al.]. Inborn Errors of Energy Metabolism Associated with Myopathies. BioMed Research International No. 2010 (Dec. 2010), pp.1-19.
https://search.emarefa.net/detail/BIM-988867
American Medical Association (AMA)
Das, Anibh M.& Steuerwald, Ulrike& Illsinger, Sabine. Inborn Errors of Energy Metabolism Associated with Myopathies. BioMed Research International. 2010. Vol. 2010, no. 2010, pp.1-19.
https://search.emarefa.net/detail/BIM-988867
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-988867