@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 28-year-old patient with suspected metabolic defect was examined. A biopsy of quadriceps sinis-ter was performed. Electron microscopy revealed preserved architecture of muscle fibers, but in type I muscle fibres damaged mitochondria characterized by light mitochondrial matrix and partially or totally devoid of mitochondrial cristae were seen. Also quite numerous fat droplets were observed.A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitine palmitoyltransferase in the muscle tissue was performed and the result was 0,57 nM/mgB/min (Norm 6,5-18 nM/mgB/min).}, title={Files for neuromuscular diseases (2011) - nr 27/11}, type={Text}, type={Image}, URL={http://www.rcin.org.pl/Content/135975/PDF/27_11_calosc.pdf}, keywords={Metabolic defect}, }