Myopathy with unique ultrastructural feature in marchinesco‐sjögren syndrome
- 1 October 1988
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 24 (4) , 576-580
- https://doi.org/10.1002/ana.410240416
Abstract
We have investigated 3 children aged 6, 3, and 2 years, from 2 families, with the clinical features of Marchinesco-Sjögren syndrome. Muscle biopsy specimens from all 3 were abnormal and showed srrall vacuoles and slight variation in fiber size. Electron microscopy revealed vacuolation and membranous whorls and, in particular, a unique dense membranous structure associated with nuclei. These cases emphasize the involvement of muscle in Marchinesco-Sjögren syndrome and the importance of electron microscopy in differentil diagnosis.This publication has 13 references indexed in Scilit:
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