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- W4296229265 abstract "Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired muscle development or functioning. We have summarized associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies. This represents the tenth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement." @default.
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- W4296229265 date "2022-09-01" @default.
- W4296229265 modified "2023-10-16" @default.
- W4296229265 title "Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies" @default.
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- W4296229265 doi "https://doi.org/10.1016/j.ymgme.2022.09.004" @default.
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