TY - JOUR
T1 - NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations
AU - Ricci, Enzo
AU - Broccolini, Aldobrando
AU - Gidaro, T.
AU - Morosetti, Roberta
AU - Gliubizzi, Carla
AU - Frusciante, R.
AU - Di Lella, Giuseppe Maria
AU - Tonali, P. A.
AU - Mirabella, Massimiliano
PY - 2006
Y1 - 2006
N2 - 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.
AB - 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.
KW - NCAM
KW - NCAM
UR - http://hdl.handle.net/10807/304088
U2 - 10.1212/01.wnl.0000200956.76449.3f
DO - 10.1212/01.wnl.0000200956.76449.3f
M3 - Article
SN - 0028-3878
VL - 66
SP - 755
EP - 758
JO - Neurology
JF - Neurology
ER -