NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
نویسندگان
چکیده
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.
منابع مشابه
Cell stress molecules in the skeletal muscle of GNE myopathy
BACKGROUND Mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE)-gene are causally related to GNE myopathy. Yet, underlying pathomechanisms of muscle fibre damage have remained elusive. In sporadic inclusion body myositis (sIBM), the pro-inflammatory cell-stress mediators αB-crystallin and inducible nitric oxide synthase (iNOS) are crucial markers of the disease ...
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ورودعنوان ژورنال:
- Neurology
دوره 66 5 شماره
صفحات -
تاریخ انتشار 2006