Update Review about 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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metabolic myopathies

metabolic myopathies are genetically inherited disorders of muscle energy production that result in skeletal muscle dysfunction. they are a large group of diseases with diverse inborn errors of metabolism, in particular muscle energy production, and including disorders of glycogen (lysosomal and non-lysosomal glycogenoses), lipid (disorders of fatty acid b-oxidation, primary carnitine deficienc...

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Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of disease with complex clinical features. The histological features of them usually include various degrees of degenerative changes and inflammatory (usually lymphocytic) infiltrates [1]. Histopathological evaluation is one of the key tools for the diagnosis of IIM. Because of the complexity of clinical, morphological and labor...

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ژورنال

عنوان ژورنال: Life

سال: 2020

ISSN: 2075-1729

DOI: 10.3390/life10040043