TY - JOUR JO - Folia Neuropathologica SN - 1641-4640 VL - 45 IS - 2 PY - 2007 ID - Fidziańska2007 TI - Nuclear architecture remodelling in envelopathies AB - We performed ultrastructural studies on nuclear abnormalities in muscle from 8 patients with X-linked and autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD) and one case with progeroid syndrome. The diagnosis was based on clinical and molecular findings. We detected various degrees of nuclear architecture remodelling ranging from misshapen shape, nuclear disintegration, nuclear chromatin condensation and decondensation, focal chromatin loss to complete nuclear fragmentation. The most interesting finding was the appearance of tubulofilamentous inclusions inside the nuclear matrix of X-linked EDMD patients. All these nuclear aberrations are considered to be structural indicators of nuclear dysfunction evoked by envelope protein deficiency. AU - Fidziańska, Anna AU - Glinka, Zofia SP - 47 EP - 55 DA - 2007 UR - https://www.termedia.pl/Nuclear-architecture-remodelling-in-envelopathies,20,8352,1,1.html ER -