@misc{Fidziańska-Dolot_Anna_(1930–2015)_Files_2013, 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={2013}, language={pol}, abstract={A 34-year-old patinet with suspected laminopathy was examined. A biopsy of quadriceps sinister was perfomed. Electromicroscopy analysis showed unchanged muscule architecture but numerous fat droplets located peripherally were seen. Fat droplets of different diameters were visible also within the muscle fibers. In muscle fibers of smaller diameter, fat structures filled most of the fiber. A metabolic defect was suspected. Bochemical examination of carnitine palmitoyltransferase was performed and the results was 1,78 nM/mgB/min. (Norm 6,5-18 08 nM/mgB/min.)}, type={Text}, title={Files for neuromuscular diseases (2013) - nr 39/13}, URL={http://www.rcin.org.pl/Content/114285/PDF/39_13_calosc.pdf}, keywords={Laminopathy}, }