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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 1998-4022
Vol. 56, No. 3, 2008, pp. 391-393
Bioline Code: ni08095
Full paper language: English
Document type: Case Report
Document available free of charge

Neurology India, Vol. 56, No. 3, 2008, pp. 391-393

 en Lipid storage myopathies with unusual clinical manifestations
Uppin, Megha S.; Sundaram, C.; Meena, A.K.; Reddy, Krishna Mohan; Reddy, K. Krishna; Vanniarajan, A. & Thangaraj, K.

Abstract

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.

Keywords
Carnitine therapy, lipid storage myopathy, muscle biopsy

 
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