Myopathy with Abnormal Lipid Metabolism

Known as: Lipid Storage Myopathy 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1993-2018
012319932018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the… (More)
  • figure 1
  • figure 2
  • table 1
  • table 2
Is this relevant?
2016
2016
BACKGROUND Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset… (More)
Is this relevant?
2016
2016
AIMS Triglycerides droplets are massively stored in muscle in Lipid Storage Myopathies (LSM). We studied in muscle regulators of… (More)
Is this relevant?
2016
2016
Lipid dysmetabolism disease is a condition in which lipids are stored abnormally in organs and tissues throughout the body… (More)
Is this relevant?
2015
2015
A 1-year-old spayed female Shih Tzu presented for episodic abnormalities of posture and mentation. Neurological examination was… (More)
Is this relevant?
2015
2015
We report a novel mutation in the electron transfer flavoprotein dehydrogenase (EFTDH) gene in an adolescent Chinese patient with… (More)
Is this relevant?
2012
2012
Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with… (More)
Is this relevant?
Review
2012
Review
2012
BACKGROUND Muscle enzymes sometimes can provide clues for many similar neuromuscular disorders. However literatures that… (More)
  • table 1
  • table 2
  • figure 1
  • table 4
  • figure 2
Is this relevant?
Review
2011
Review
2011
Lipid storage myopathy (LSM) is pathologically characterized by prominent lipid accumulation in muscle fibers due to lipid… (More)
Is this relevant?
1993
1993
Abnormal carnitine distribution in muscle was found in 22 of 77 patients (29%), with mitochondrial myopathy. Furthermore, total… (More)
Is this relevant?