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A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film

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.

Publication metadata

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


DOI: 10.1016/j.nmd.2019.09.008

PubMed id: 31668500


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