NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations
E Ricci, A Broccolini, T Gidaro, R Morosetti, C Gliubizzi… - Neurology, 2006 - AAN Enterprises
E Ricci, A Broccolini, T Gidaro, R Morosetti, C Gliubizzi, R Frusciante, GM Di Lella, PA Tonali…
Neurology, 2006•AAN EnterprisesThe 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.
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.
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.
American Academy of Neurology