Pilot study on intramembrane particles using freeze-fracturing in muscular dystrophy patients and their families
Milani-Comparetti, M.; Ferrara, P.; Diotallevi, P.; Balducci, E.; Cangiotti, A.M.; Canapa, A.; Danni, M.; Cinti, S.
Bollettino della Societa Italiana di Biologia Sperimentale 64(7): 631-638
1988
ISSN/ISBN: 0037-8771 PMID: 3228508 Document Number: 311059
A first panel of intramembrane (face E) particles from arythrocyte "ghosts" from 1 DMD and 2 BMD patients, 10 DMD and BMD relatives, and 7 controls were studied by freeze-fracturing technique. The number of particles/square micron ("number") observed in patients and their relatives was compared with the "number" observed in controls. An analysis of results allows to note the following: 1) a boy with DMD has a markedly reduced number; 2) two boys with BMD show a nearly normal and respectively increased number; 3) a father (of a DMD boy) with altered EMG has a sharply reduced number, while another father (of two DMD boys) with altered EMG has a clearly increased number; 4) number tends to be greater in women than in men; 5) there is wide variability in the number among photographs of the same person. These results have to be considered prudently: further results from a larger panel (80 patients and relatives, 11 controls) and from P faces are forthcoming.