Lipid storage myopathies with unusual clinical manifestations.

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2008-07-01
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We describe the clinical presentation, course and pathologic findings found in three adult patients with lipid storage myopathy. Excessive lipid storage was found in Type 1 fibers of muscle. Clinical improvement on oral levo-carnitine therapy suggests the possibility of carnitine deficiency as the most likely etiology in two of the patients and one had mitochondrial myopathy confirmed on genetic analysis.
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Uppin MS, Sundaram C, Meena AK, Reddy KM, Reddy KK, Vanniarajan A, Thangaraj K. Lipid storage myopathies with unusual clinical manifestations. Neurology India. 2008 Jul-Sep; 56(3): 391-3
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