@misc{Fidziańska-Dolot_Anna_(1930–2015)_Files_2014, 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={2014}, language={pol}, abstract={A 5-month-old patient with suspected myasthenic syndrome was examined. A biopsy of quadricepswas performed. Electronmicroscopy analysis revealed numerous ultrastructural abnormalities ofmuscle fibers with features of immaturity. Local disintegration of myofibrils and swollenmitochondria were observed. Mitochondria were characterized by partial or total lack ofmitochondrial cristae. Massive glycogen depositions were seen (Fig. 1,2). In some part of myocytesloss of myofibrils were visible. Empty areas were filled with homogeneous myofibril-like material(Fig. 3).Multi-shaped nuclei with the characteristic accumulation of heterochromatin and cleavageofthe outer nuclear membrane were observed. Mitochondria were swollen, with blurred cristae andmitochondrial membranes (Fig 4,5,6). Nuclei of irregular shape with clear features of nucleopathy(disrupted nuclear membrane, mitochondria within the nuclei) were seen (Fig 8,9).}, title={Files for neuromuscular diseases (2014) - nr 24/14}, type={Text}, URL={http://www.rcin.org.pl/Content/110692/PDF/24_14_calosc.pdf}, keywords={Myasthenic syndrome, Glycogen, Nucleopathy}, }