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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2011
Témata:
Research Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky