Article
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
PloS one - 1 Jan 2011
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 excerpt
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 expressed in peripheral blood monocytes (PBM). Studying dysferlin in monocytes is used for the diagnosis of...
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