Exercise efficiency impairment in metabolic myopathies
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DOI: 10.1038/s41598-020-65770-y
Abstract: Metabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system resulting in exercise intolerance. The primary aim of this research was to evaluate the oxygen cost (∆V’O 2 /∆Work-Rate)… read more here.
Keywords: work; muscle; non metabolic; metabolic myopathies ... See more keywords
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-65797-1
Abstract: Metabolic myopathies comprise a diverse group of inborn errors of intermediary metabolism affecting skeletal muscle, and often present clinically as an inability to perform normal exercise. Our aim was to use the maximal mechanical performances… read more here.
Keywords: pred pred; metabolic myopathies; ratio; myalgia ... See more keywords
Update on diagnostics of metabolic myopathies
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DOI: 10.1097/wco.0000000000000483
Abstract: Purpose of review This review aims to highlight the most relevant clinical and laboratory findings, regarding acute and progressive metabolic myopathies, and to develop an algorithm addressing clinicians to clinical practice. Recent findings Although diagnosis… read more here.
Keywords: neurology; diagnosis; diagnostics metabolic; metabolic myopathies ... See more keywords
Metabolic Myopathies.
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DOI: 10.1212/con.0000000000001182
Abstract: PURPOSE OF REVIEW Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. RECENT FINDINGS… read more here.
Keywords: oxidation; muscle; fatty acid; metabolic myopathies ... See more keywords
Metabolic Myopathies in the Era of Next-Generation Sequencing
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DOI: 10.3390/genes14050954
Abstract: Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are… read more here.
Keywords: era next; metabolic myopathies; myopathies era; next generation ... See more keywords