What is it about?
Dysferlinopathies are under diagnosed clinical entities due to their phenotypic variability. It is the second most frequent cause of muscular dystrophy in Mexico. We have shown that determining normal levels of dysferlin expression in CD14+ monocytes by flow cytometry, may serve as a screening tool for dysferlinopathies.
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Why is it important?
We demonstrated that dysferlin values expressed in monocytes may differentiate patients with dysferlinopathy from healthy individuals. Besides the sampling procedure described in this study is easier, less aggressive, and suitable for fast screening of dysferlin expression at a pre-molecular diagnostic step.
Perspectives
I consider that our screening tool is an important diagnosis alternative that may facilitate the identification of dysferlinopathies in a pre-molecular diagnosis step and in those cases in which a muscular biopsy can not be taken.
Dr Laura Sánchez-Chapul
Instituto Nacional de Rehabilitación
Read the Original
This page is a summary of: Dysferlin quantification in monocytes for rapid screening for dysferlinopathies, Muscle & Nerve, October 2016, Wiley,
DOI: 10.1002/mus.25156.
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