Neurology · 2006 · 10 citations · 7 references
MedicineNeurologyPathologyMolecular PathologyNeuromuscular DisordersNeuropathologyHereditary NeuropathiesInclusion Body MyositisSubdural HematomaAcute Subdural HematomaCell Adhesion Molecule AlterationDiagnostic Marker DiscoveryHereditary Inclusion Body MyopathyInclusion Body LesionsSubdural Hematoma DiagnosisWestern Blot Analysis
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.
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S. Noguchi, Yoko Keira, Kumiko Murayama et al. · Journal of Biological Chemistry · 2004 · 159 citations · Full text
Familial Inclusion Body Myositis Among Kurdish-Iranian Jews
Roberto Massa, B Weller, George Karpati et al. · Archives of Neurology · 1991 · 58 citations