Lipid storage myopathy in Kearns-Sayre syndrome.
A 7-year-old girl had external ophthalmoplegia, limb weakness, short stature, hearing loss, pigmentary degeneration of the retina, and increased CSF protein content. Muscle biopsy revealed vacuolar myopathy with accumulation of lipids. Electronmicroscopy showed abnormalities of shape, size, and internal structure of muscle mitochondria. Muscle activity of palmitoyl-CoA synthetase was decreased, and the content of lipids was increased. Serum and muscle carnitine levels were normal, as were muscle carnitine palmitoyltransferase and carnitine acetyltransferase.
Niebrój-Dobosz
I
I
Ryniewicz
B
B
Fidziańska
A
A
Badurska
B
B
D002648:Child; D003066:Coenzyme A Ligases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000378:metabolism* / Q000473:pathology; D050356:Lipid Metabolism; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology; D009886:Ophthalmoplegia / Q000378:metabolism*; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase