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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
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2016
2016
Aims Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of… Expand
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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
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
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