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Immunolabelling and flow cytometry as new tools to explore dysferlinopathies
| Content Provider | Semantic Scholar |
|---|---|
| Author | Wein, Nicolas Krahn, Martin Courrier, Sébastien Bartoli, Manon Levy, Nicolas |
| Copyright Year | 2010 |
| Abstract | Dysferlinopathies are autosomal recessive muscular dystrophies caused by DYSF mutations, which lead to a reduced amount or a complete lack of dysferlin. One step in dysferlinopathies diagnosis consists in Western blot analysis of proteins extracted from muscle biopsy, or blood monocytes. We have taken advantage of dysferlin expression in monocytes to develop a whole blood flow cytometry (WBFC), using antibodies directed against dysferlin. Six patients were submitted to WBFC analysis and immunofluorescence analysis on monocytes. Results obtained are correlated to Western blot from monocytes and muscle biopsies. The possible usefulness of this flow cytometry analysis in routine diagnosis is presented. |
| Starting Page | 57 |
| Ending Page | 60 |
| Page Count | 4 |
| File Format | PDF HTM / HTML |
| DOI | 10.1016/j.nmd.2009.08.004 |
| PubMed reference number | 19854055 |
| Journal | Medline |
| Volume Number | 20 |
| Alternate Webpage(s) | https://api.elsevier.com/content/article/pii/S0960896609005847 |
| Alternate Webpage(s) | https://www.sciencedirect.com/science/article/pii/S0960896609005847?dgcid=api_sd_search-api-endpoint |
| Alternate Webpage(s) | https://doi.org/10.1016/j.nmd.2009.08.004 |
| Journal | Neuromuscular Disorders |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
