Lipid storage myopathy
Common Name(s)
Lipid storage myopathy
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Lipid storage myopathy" for support, advocacy or research.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Lipid storage myopathy" for support, advocacy or research.
Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Lipid storage myopathy can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lipid storage myopathy" returned 14 free, full-text research articles on human participants.
First 3 results:
Journal: Neuromuscul. Disord.. 2017 May;27(5):481-486.
Neutral lipid storage disease with myopathy (NLSDM) presents with skeletal muscle myopathy and severe dilated cardiomyopathy in nearly 40% of cases. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report clinical and genetic ...
Journal: Chin. Med. J.. 2016 Jun;129(12):1425-31.
Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially ...
Journal: Arch Iran Med. 2015 Aug;18(8):545-8.
Lipid storage myopathy is a metabolic disorder characterized by abnormal lipid accumulation in muscle fibers and progressive muscle weakness. Here, we report the case of a 17-year-old woman with progressive muscle weakness, refractory hyperlactatemia, and multiple organ insufficiency. ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lipid storage myopathy" returned 0 free, full-text review articles on human participants.
No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Lipid storage myopathy".
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/PNPLA2
https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome
https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii
https://ghr.nlm.nih.gov/condition/sandhoff-disease
https://ghr.nlm.nih.gov/condition/danon-disease
https://ghr.nlm.nih.gov/gene/PLIN1
https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis
https://ghr.nlm.nih.gov/condition/sitosterolemia
https://ghr.nlm.nih.gov/condition/niemann-pick-disease
https://ghr.nlm.nih.gov/gene/KIAA1109
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii
https://ghr.nlm.nih.gov/gene/CLN3
https://ghr.nlm.nih.gov/condition/cap-myopathy
https://ghr.nlm.nih.gov/condition/centronuclear-myopathy
https://ghr.nlm.nih.gov/condition/miyoshi-myopathy
https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy
https://ghr.nlm.nih.gov/condition/brody-myopathy
There are currently no related results available in GeneReviews.
Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Neutral Lipid Storage Disease
Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency
Finding the right clinical trial for Lipid storage myopathy can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.