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Metabolic myopathies: a practical approach

9 Dec 2017

Abstract excerpt

Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard...

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PMID: 29223996
DOI: 10.1136/practneurol-2017-001708

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