TY - GEN A1 - Fidziańska-Dolot, Anna (1930–2015) A2 - Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular N1 - Muscle segment examination in light microscopy N2 - 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.). L1 - http://www.rcin.org.pl/Content/121259/PDF/14_12_calosc.pdf M3 - Text CY - Warsaw PY - 2012 KW - Carnitine palmitoyltransferase - deficiency KW - Quadriceps sinister T1 - Files for neuromuscular diseases (2012) - nr 14/12 UR - http://www.rcin.org.pl/dlibra/publication/edition/121259 ER -