Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.
Neuromuscul Disord
; 20(1): 57-60, 2010 Jan.
Article
en En
| MEDLINE
| ID: mdl-19854055
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Inmunohistoquímica
/
Citometría de Flujo
/
Proteínas de la Membrana
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Proteínas Musculares
/
Distrofias Musculares
Límite:
Humans
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Francia