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. (2008) Lipid storage myopathies with unusual clinical manifestations Neurology India, 56 (3). pp. 391-393. ISSN 0028-3886

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Official URL: http://www.neurologyindia.com/article.asp?issn=002...

Related URL: http://dx.doi.org/10.4103/0028-3886.43460

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.

Item Type:Article
Source:Copyright of this article belongs to Neurological Society of India.
Keywords:Carnitine Therapy; Lipid Storage Myopathy; Muscle Biopsy
ID Code:107582
Deposited On:25 Jul 2017 11:12
Last Modified:25 Jul 2017 11:20

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