Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

BACKGROUND: Dysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a primary defect in some other gene. Dysferlin is also...

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Detalles Bibliográficos
Autores principales: Gallardo, Eduard, de Luna, Noemi, Diaz-Manera, Jordi, Rojas-García, Ricardo, Gonzalez-Quereda, Lidia, Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241698/
https://www.ncbi.nlm.nih.gov/pubmed/22194990
http://dx.doi.org/10.1371/journal.pone.0029061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241698/
https://www.ncbi.nlm.nih.gov/pubmed/22194990
http://dx.doi.org/10.1371/journal.pone.0029061

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