@misc{Fidziańska-Dolot_Anna_(1930–2015)_Files_2010, author={Fidziańska-Dolot, Anna (1930–2015)}, editor={Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular}, copyright={Creative Commons Attribution BY 4.0 license}, address={Warsaw}, howpublished={online}, year={2010}, language={pol}, abstract={A 19-year-old patient with suspected myopathy was examined. A biopsy of quadriceps sinister wasperformed.No significant ultrastructural changes in muscle fibers were observed. Some mitochondria werecharacterized by loss of mitochondrial cristae. Electronmicroscopy analysis revealedalso the presence of fat droplets within the muscle fibers.A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitinepalmitoyltransferase was performed and it showed enzyme deficiency. The result of carnitinepalmitoyltransferase level was 4,38 nM/mgB/min. (normal range 6,5-18 nM/mgB/min.).}, type={Text}, type={Image}, title={Files for neuromuscular diseases (2010) - nr 6/10}, URL={http://rcin.org.pl./Content/126504/PDF/6_10_calosc.pdf}, keywords={Myopathy}, }