Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular
Muscle segment examination in light microscopy
Summary A 44-year-old patient with suspected carnitine palmitoyltransferase deficiency was examined. A biopsy of quadriceps sinister was performed. Electronmicroscopy analysis revealed normal ultrastructure of fibers and nuclei. Significant changes were observed within some mitochondria. Theywere characterized by blurred cristae or were devoid of mitochondrial cristae. Small homogeneous inclusions were present inside the mitochondria. Fat droplets were seen (Fig. 1,2,3). A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitine palmitoyltransferase in the muscle tissue was performed and the result was 2,0nM/mgB/min. (Norm 6,5-18 nM/mgB/min.).
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Mossakowski Medical Research Institute PAS
Library of the Mossakowski Medical Research Institute PAS
Feb 1, 2022
Apr 21, 2020
43
https://rcin.org.pl./publication/112189
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opis 14/12 | Feb 1, 2022 |