Skip to search formSkip to main contentSkip to account menu

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
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… 
2018
2018
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH
Rationale: Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) mainly affects the neck extensor muscle group… 
2017
2017
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… 
2016
2016
Lipolysis and lipophagy in lipid storage myopathies
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… 
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… 
Review
2012
Review
2012
Value of muscle enzyme measurement in evaluating different neuromuscular diseases.
Review
2011
Review
2011
Lipid Storage Myopathy
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid… 
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… 
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… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)