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.
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Authors | Megha S Uppin, C Sundaram, A K Meena, Krishna Mohan Reddy, K Krishna Reddy, A Vanniarajan, K Thangaraj |
Journal | Neurology India
(Neurol India)
2008 Jul-Sep
Vol. 56
Issue 3
Pg. 391-3
ISSN: 0028-3886 [Print] India |
PMID | 18974571
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Female
- Humans
- Lipid Metabolism
- Middle Aged
- Muscle Fibers, Skeletal
(pathology)
- Muscular Diseases
(diagnosis, pathology, therapy)
- Young Adult
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