Spectrum of metabolic myopathies

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Metabolic myopathies.

PURPOSE OF REVIEW The metabolic myopathies result from inborn errors of metabolism affecting intracellular energy production due to defects in glycogen, lipid, adenine nucleotides, and mitochondrial metabolism. This article provides an overview of the most common metabolic myopathies. RECENT FINDINGS Our knowledge of metabolic myopathies has expanded rapidly in recent years, providing us with...

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A diagnostic algorithm for metabolic myopathies.

Metabolic myopathies comprise a clinically and etiologically diverse group of disorders caused by defects in cellular energy metabolism, including the breakdown of carbohydrates and fatty acids to generate adenosine triphosphate, predominantly through mitochondrial oxidative phosphorylation. Accordingly, the three main categories of metabolic myopathies are glycogen storage diseases, fatty acid...

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ژورنال

عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

سال: 2015

ISSN: 0925-4439

DOI: 10.1016/j.bbadis.2014.06.031