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• W4235643319 startingPage "87" @default.
• W4235643319 abstract "Children and adults with metabolic myopathies have underlying deficiencies of energy production, which may result in dysfunction of muscle or other energy-dependent tissues, or both. Patients with disorders of glycogen, lipid, or mitochondrial metabolism in muscle may present with dynamic findings (i.e., exercise intolerance, reversible weakness, and myoglobinuria) or progressive muscle weakness, or both. In this first part of the review, we present a brief description of energy metabolism in muscle, a simplified overview of the clinical and laboratory evaluation of the patient with suspected metabolic myopathy, and a diagnostic algorithm aimed at predicting the nature of the underlying biochemical abnormality. The goal is to simplify a complex field of neuromuscular disease and thus lead to early recognition and treatment of these disorders." @default.
• W4235643319 created "2022-05-12" @default.
• W4235643319 creator A5005217529 @default.
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• W4235643319 date "2000-02-01" @default.
• W4235643319 modified "2023-10-07" @default.
• W4235643319 title "Metabolic myopathies: a clinical approach; part I" @default.
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• W4235643319 doi "https://doi.org/10.1016/s0887-8994(99)00133-2" @default.
• W4235643319 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10738913" @default.
• W4235643319 hasPublicationYear "2000" @default.
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