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Myopathy with Abnormal Lipid Metabolism

Known as: Lipid Storage Myopathy 
 
National Institutes of Health

Papers overview

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2018
2018
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the… Expand
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2018
2018
BackgroundDeficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase… Expand
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2018
2018
BackgroundLipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical… Expand
2016
2016
Aims Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of… Expand
2016
2016
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with electron transfer flavoprotein dehydrogenase (ETFDH) gene… Expand
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2016
2016
Background:Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset… Expand
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2015
2015
A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurological examination was… Expand
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Review
2011
Review
2011
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid… Expand
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Review
2010
Review
2010
  • W. Liang, I. Nishino
  • Acta myologica : myopathies and cardiomyopathies…
  • 2010
  • Corpus ID: 14856022
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand… Expand
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1993
1993
Abnormal carnitine distribution in muscle was found in 22 of 77 patients (29%), with mitochondrial myopathy. Furthermore, total… Expand