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Results 1 - 2 of 2 for Myopathy with abnormal lipid metabolism
  1. Barth syndrome 
    ... II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria DNAJC19 defect MGA type 2 MGA type ... J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as ... Epub 2013 Jan 8. Citation on PubMed
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  2. TAFAZZIN gene 
    ... cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the ... FM. The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta. 2009 Oct;1788(10):2003- ...
    https://medlineplus.gov/genetics/gene/tafazzin - Genetics