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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.
2020
2020
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin
Abstract Background: Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD… 
2019
2019
Title Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy : a case report
Background: Lipid 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… 
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… 
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