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• Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

  Johansson J, Frykholm C, Ericson K, Kazamia K, Lindberg A, Mulaiese N, Falck G, Gustafsson PE, Lidéus S, Gudmundsson S, Ameur A, Bondeson ML, Wilbe M. Johansson J, et al. Am J Med Genet A. 2022 Jun;188(6):1676-1687. doi: 10.1002/ajmg.a.62685. Epub 2022 Feb 15. Am J Med Genet A. 2022. PMID: 35166435 Free PMC article.
• Cardiomyopathy in a c.1528G>C Hadha mouse is associated with cardiac tissue lipotoxicity and altered cardiolipin species.

  Eke C, Babcock S, Gaston G, Elizondo G, Chung H, Asal A, Chatfield KC, Sparagna GC, DeBarber AE, Packwood W, Lindner JR, Gillingham MB. Eke C, et al. J Lipid Res. 2025 May;66(5):100792. doi: 10.1016/j.jlr.2025.100792. Epub 2025 Mar 29. J Lipid Res. 2025. PMID: 40164334 Free PMC article.
• Metabolic cardiomyopathies.

  Guertl B, Noehammer C, Hoefler G. Guertl B, et al. Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x. Int J Exp Pathol. 2000. PMID: 11298185 Free PMC article. Review.
• Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

  Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J. Gillingham MB, et al. J Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub 2017 Sep 4. J Inherit Metab Dis. 2017. PMID: 28871440 Free PMC article. Clinical Trial.
• Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase.

  Dyke PC 2nd, Konczal L, Bartholomew D, McBride KL, Hoffman TM. Dyke PC 2nd, et al. Pediatr Cardiol. 2009 May;30(4):523-6. doi: 10.1007/s00246-008-9351-8. Epub 2008 Dec 16. Pediatr Cardiol. 2009. PMID: 19083141