Review
doi: 10.1055/s-0035-1558973.
Epub 2015 Oct 6.
Metabolic Myopathies
Affiliations
- PMID: 26502762
- DOI: 10.1055/s-0035-1558973
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Review
Metabolic Myopathies
Semin Neurol.
2015 Aug.
Abstract
Metabolic myopathies encompass a group of rare disorders arising from defects in glycogen breakdown (glycogenolysis), glucose utilization (glycolysis), fatty acid transport and oxidation, and energy production along the mitochondrial respiratory chain. The authors review the ancillary testing used in the workup of metabolic myopathies and provide a detailed discussion of these individual disorders and how to approach patients suspected to have such diagnoses.
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
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