@misc{Fidziańska-Dolot_Anna_(1930–2015)_Files_2011, 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={2011}, language={pol}, abstract={A 35-year-old patient with suspected metabolic defect was examined. A biopsy of quadriceps sinis-ter was performed. Electron microscopy did not reveal significant changes in muscle fibers architecture, but damaged mitochondria partially devoid of mitochondrial cristae were seen. Also quite numerous fat droplets were observed. A microscopic image suggests defect of mitochondrial enzymes. Biochemical examination of car-nitine palmitoyltransferase in the muscle tissue was performed and the result was 0,15 nM/mgB/min (Norm 6,5-18 nM/mgB/min).}, title={Files for neuromuscular diseases (2011) - nr 4/11}, type={Text}, type={Image}, URL={http://rcin.org.pl/Content/136527/PDF/4_11_calosc.pdf}, keywords={Metabolic defect}, }