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Lookup NU author(s): Daniel CoxORCiD, Matt Henderson, Professor Volker StraubORCiD, Dr Rita Barresi
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2019 Elsevier B.V. The assessment of dysferlin expression is useful to indicate or confirm the diagnosis of dysferlinopathies, a class of muscular diseases caused by mutations in the DYSF gene. Immunoblot analysis of skeletal muscle or monocytes is a specific and reliable diagnostic indicator of the disease, but the technique is specialized and laborious. We have developed a novel, robust immunoassay for detection of dysferlin in neutrophils requiring as little as one drop of blood. Our assay overcomes the issues of storage and handling of samples suggesting great promise as an inexpensive and rapid first screening for DYSF mutations. This relatively simple non-quantitative assay has the potential to benefit centers with limited resources, contributing to current diagnostic investigations into dysferlinopathies.
Author(s): Cox D, Henderson M, Straub V, Barresi R
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2019
Volume: 29
Issue: 11
Pages: 874-880
Print publication date: 01/11/2019
Online publication date: 13/09/2019
Acceptance date: 11/09/2019
Date deposited: 26/11/2019
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2019.09.008
DOI: 10.1016/j.nmd.2019.09.008
PubMed id: 31668500
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