1.
Clin Genet
; 81(1): 99-101, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22150418
2.
Neuromuscul Disord
; 20(1): 57-60, 2010 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19854055
RESUMO
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.
Assuntos
Citometria de Fluxo/métodos , Imuno-Histoquímica/métodos , Proteínas de Membrana/metabolismo , Proteínas Musculares/metabolismo , Distrofias Musculares/diagnóstico , Distrofias Musculares/metabolismo , Anticorpos/metabolismo , Western Blotting , Disferlina , Imunofluorescência , Humanos , Proteínas de Membrana/genética , Proteínas de Membrana/imunologia , Monócitos/metabolismo , Proteínas Musculares/genética , Proteínas Musculares/imunologia , Músculo Esquelético/metabolismo , Distrofias Musculares/genética , Mutação
3.
Zentralbl Gynakol
; 92(34): 1113-7, 1970 Aug 22.
Artigo
em Alemão
| MEDLINE
| ID: mdl-4995979