학술논문
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.
Document Type
Article
Source
Subject
*MUSCLE diseases
*METABOLIC disorders
*MUSCLE contraction
*MUSCLE growth
*SYMPTOMS
*FOOTPRINTS
*NEUROMUSCULAR transmission
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Language
ISSN
1096-7192
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. [ABSTRACT FROM AUTHOR]