Inborn errors of energy metabolism associated with myopathies.
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ABSTRACT:
SUBMITTER: Das AM
PROVIDER: S-EPMC2877206 | biostudies-literature | 2010
REPOSITORIES: biostudies-literature
Publications
Inborn errors of energy metabolism associated with myopathies.
Das Anibh M AM Steuerwald Ulrike U Illsinger Sabine S
Journal of biomedicine & biotechnology 20100526
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 ...[more]
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