NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations

Enzo Ricci, Aldobrando Broccolini, T. Gidaro, Roberta Morosetti, Carla Gliubizzi, R. Frusciante, Giuseppe Maria Di Lella, P. A. Tonali, Massimiliano Mirabella

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM. Copyright © 2006 by AAN Enterprises, Inc.
Lingua originaleEnglish
pagine (da-a)755-758
Numero di pagine4
RivistaNeurology
Volume66
DOI
Stato di pubblicazionePubblicato - 2006

Keywords

  • NCAM

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