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.
Ricci, E., Broccolini, A., Gidaro, T., Morosetti, R., Gliubizzi, C., Frusciante, R., Di Lella, G. M., Tonali, P. A., Mirabella, M., NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations, <<NEUROLOGY>>, 2009; 66 (5): 755-758. [doi:10.1212/01.wnl.0000200956.76449.3f] [https://hdl.handle.net/10807/304088]
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations
Ricci, Enzo;Broccolini, Aldobrando;Morosetti, Roberta;Gliubizzi, Carla;Di Lella, Giuseppe Maria;Mirabella, Massimiliano
2006
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.
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