@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={An infant with congenital myopathy was examined. A biopsy of quadriceps was performed.In the whole biopsy numerous immature fibres of small diameter, in the type of primary myotubewere observed. Cells of mature myotube morphology were also seen. Nemaline bodies of varyingsize and density were visible in many of myotubes .Electronmicroscopy analysis revealed also single mature muscle fibers. In them numerous nemalinebodies were also observed.Conclusions: Nemaline myopathy with suspected ACTA-1 genetic defect. Genetic testing andconsultation at genetic outpatient clinic is recommended.}, type={Text}, title={Files for neuromuscular diseases (2013) - nr 41/13}, URL={http://rcin.org.pl./Content/128372/PDF/41_13_calosc.pdf}, keywords={Miopathy}, }