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Article

Mitochondrial and Metabolic Myopathies

1 Dec 2019

Abstract excerpt

PURPOSE OF REVIEW: This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy. Over the past decade, advances in genetic testing have revolutionized patient evaluation. The...

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Identifiers

PMID: 31794469
DOI: 10.1212/con.0000000000000805

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