Neutral lipid storage disease with myopathy is a rare genetic syndrome of abnormal intracellular lipolysis leading to lipid droplet accumulation in skeletal and cardiac muscle. Because of variability in clinical presentations, a multidisciplinary approach is essential for diagnosis and treatment.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646924PMC
http://dx.doi.org/10.1016/j.jaccas.2024.102809DOI Listing

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