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Mitochondrial and Metabolic Myopathies.

07:00 EST 1st December 2019 | BioPortfolio

Summary of "Mitochondrial and Metabolic Myopathies."

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 main goal of this review is to give the clinician the basic understanding to recognize patients at risk of these diseases using the standard history and physical examination.

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This article was published in the following journal.

Name: Continuum (Minneapolis, Minn.)
ISSN: 1538-6899
Pages: 1732-1766

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