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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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2011
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3241698/
https://ncbi.nlm.nih.gov/pubmed/22194990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0029061
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