@misc{Fidziańska-Dolot_Anna_(1930–2015)_Files_2012, 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={2012}, language={pol}, abstract={A biopsy of quadriceps from newborn baby was taken.Electronmicroscopy analysis revealed presence of normal diameter muscle fibers. They werecharacterized by preserved myofibrils and sub-membranous located cell nuclei. In many fibres fissionof the external and internal nuclear membrane and formation of “vacuoles” was observed. Withinsome mitochondria, damage of mitochondrial cristae was observed.The sarcoplasmic reticulum was significantly widened in some muscle fibres forming “vacuoles”..The ultrastructural image indicates features of nucleopathy (LBR deficiency?).}, title={Files for neuromuscular diseases (2012) - nr 53/12}, type={Text}, URL={http://rcin.org.pl/Content/128379/PDF/53_12_calosc.pdf}, }