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Results 1 - 5 of 5 for Lipid storage myopathy
  1. Neutral lipid storage disease with myopathy 
    ... disease without ichthyosis NLSDM Genetic Testing Registry: Neutral lipid storage myopathy Neutral lipid storage myopathy National Organization for Rare ...
    https://medlineplus.gov/...utral-lipid-storage-disease-with-myopathy - Genetics
  2. Short-chain acyl-CoA dehydrogenase deficiency 
    ... condition. ACADS deficiency Deficiency of butyryl-CoA dehydrogenase Lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  3. PNPLA2 gene 
    ... PNPLA2 gene have been found to cause neutral lipid storage disease with myopathy. Some of these mutations cause the enzyme to ... resulting in the signs and symptoms of neutral lipid storage disease with myopathy. More About This Health Condition adipose triglyceride lipase ...
    https://medlineplus.gov/genetics/gene/pnpla2 - Genetics
  4. Glutaric acidemia type II 
    ... Knudsen I, Andresen BS, Gregersen N, Olpin SE. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii - Genetics
  5. Chanarin-Dorfman syndrome 
    ... 11. Citation on PubMed Bruno C, Dimauro S. Lipid storage myopathies. Curr Opin Neurol. 2008 Oct;21(5):601- ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics