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- Title
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
- Authors
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
- Abstract
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 expressed in peripheral blood monocytes (PBM). Studying dysferlin in monocytes is used for the diagnosis of dysferlin myopathies. The aim of the study was to determine whether dysferlin expression in PBM correlates with that in skeletal muscle.
- Publication
PloS one, 2011, Vol 6, Issue 12, pe29061
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0029061