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Myopathy with Abnormal Lipid Metabolism

Known as: Lipid Storage Myopathy 
 
National Institutes of Health

Related topics

Related topics

5 relations
Bannayan-Riley-Ruvalcaba SyndromeCataract and cardiomyopathyDeficiency of butyryl-CoA dehydrogenase

Broader (2)

Lipid Metabolism, Inborn ErrorsMuscular Dystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
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
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
BackgroundDeficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase… Expand
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2018
2018
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report
BackgroundLipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical… Expand
Is this relevant?
2016
2016
Lipolysis and lipophagy in lipid storage myopathies
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
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) with electron transfer flavoprotein dehydrogenase (ETFDH) gene… Expand
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2016
2016
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations
Background: Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset… Expand
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2015
2015
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog
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
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
State of the art in muscle lipid diseases
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
Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy.
Abnormal carnitine distribution in muscle was found in 22 of 77 patients (29%), with mitochondrial myopathy. Furthermore, total… Expand
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