@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={Po A 4-year-old patient was examined. A biopsy of quadriceps sinister was performed. Electronmicroscopy analysis revealed ultrastructurally changed myofibres. The vast majority of muscle fibers were characterized by centrally located nuclei, usually single or in number of two (Fig. 1,2,3,4,5,6.) In some fibers in the longitudinal section we observed a centrally arranged row of many nuclei and the evident loss of myofibril was seen (Fig. 7). The disruption of the contractile apparatus was observed, especially near the cell nuclei (Fig. 8,9,10). Abundant connective tissue was visible (Fig. 11). Ultrastructural and clinical picture suggests centronuclear myopathy associated with inappropriate BIN1 gene activity.}, type={Text}, title={Files for neuromuscular diseases (2012) - nr 70/12}, URL={http://rcin.org.pl./Content/121261/PDF/70_12_calosc.pdf}, keywords={Myopathy}, }