Lipid storage myopathies with unusual clinical manifestations.

نویسندگان

  • Megha S Uppin
  • C Sundaram
  • A K Meena
  • Krishna Mohan Reddy
  • K Krishna Reddy
  • A Vanniarajan
  • K Thangaraj
چکیده

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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عنوان ژورنال:
  • Neurology India

دوره 56 3  شماره 

صفحات  -

تاریخ انتشار 2008