Dysferlin quantification in monocytes for rapid screening for dysferlinopathies.

Abstract:

INTRODUCTION:In this study, we determined normal levels of dysferlin expression in CD14+ monocytes by flow cytometry (FC) as a screening tool for dysferlinopathies. METHODS:Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software. RESULTS:The relative quantity of dysferlin was expressed as mean fluorescence intensity (MFI). Performance of this diagnostic test was assessed by calculating likelihood ratios at different MFI cut-off points, which allowed definition of 4 disease classification groups in a simplified algorithm. CONCLUSION:The MFI value may differentiate patients with dysferlinopathy from healthy individuals; it may be a useful marker for screening purposes. Muscle Nerve 54: 1064-1071, 2016.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Sánchez-Chapul L,Ángel-Muñoz MD,Ruano-Calderón L,Luna-Angulo A,Coral-Vázquez R,Hernández-Hernández Ó,Magaña JJ,León-Hernández SR,Escobar-Cedillo RE,Vargas S

doi

10.1002/mus.25156

subject

Has Abstract

pub_date

2016-12-01 00:00:00

pages

1064-1071

issue

6

eissn

0148-639X

issn

1097-4598

journal_volume

54

pub_type

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