NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
case_series · Level IV
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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.
Medical subject headings
- Multienzyme Complexes
- Mutation
- Myositis, Inclusion Body
- Neural Cell Adhesion Molecules