A blood-based assay for dysferlinopathies

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) C07H 21/04 (2006.01) C12P 19/34 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2468431

It has been discovered that dysferlin is expressed in blood and that individuals who lack dysferlin in muscle also lack it in CD14(+) cells. Based on these discoveries, blood-based tests for dysferlin expression and uses of such tests are described.

On a découvert que la dysferline est exprimée dans le sang et que les individus qui en manquent dans les muscles en manquent également dans les cellules CD14(+). Sur la base de ces découvertes, on décrit des tests sanguins permettant de déceler l'expression de la dysferline, et l'utilisation de ces tests.

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