Article
Ultrastructure of mitochondria and damage to small blood vessels in siblings with the same mutation in the NOTCH 3 and coexisting diseases.
Polish journal of pathology : official journal of the Polish Society of Pathologists - 1 Jan 2021
Felczak Paulina, Cudna Agnieszka, Błażejewska-Hyżorek Beata, Buczek Julia, Kurkowska-Jastrzębska Iwona, Stępień Tomasz, Acewicz Albert, Wierzba-Bobrowicz Teresa
Abstract excerpt
We performed ultrastructural studies of mitochondria and evaluated the appearance of small blood vessels of three middle-aged siblings affected by the same mutation in the NOTCH3 gene, causing CADASIL. CADASIL pathognomonic features include granular osmiophilic material (GOM), which we observed. GOMs were located in damaged and thickened basement membranes (BM) of capillaries and arterioles. Our patients were...
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