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NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Ricci, Enzo Broccolini, Aldobrando Gidaro, Teresa Morosetti, Roberta Gliubizzi, Carla Frusciante, Roberto Lella, Giuseppe Di Tonali, Pietro A. Mirabella, Massimiliano |
| Copyright Year | 2006 |
| 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. |
| Starting Page | 901 |
| Ending Page | 905 |
| Page Count | 5 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://www.neurology.org/content/66/5/758.full.pdf |
| PubMed reference number | 16534119v1 |
| Volume Number | 66 |
| Issue Number | 5 |
| Journal | Neurology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Diagnostic Factor GNE gene Inclusion Bodies Large Molecular Weight Muscle Mutation NONAKA MYOPATHY Neural Cell Adhesion Molecules Neurons Patients Western Blotting |
| Content Type | Text |
| Resource Type | Article |
