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Dysferlin quantification in monocytes for rapid screening for dysferlinopathies
Author(s) -
SánchezChapul Laura,
ÁngelMuñoz Miguel Del,
RuanoCalderón Luis,
LunaAngulo Alexandra,
CoralVázquez Ramón,
HernándezHernández Óscar,
Magaña Jonathan J.,
LeónHernández Saúl R.,
EscobarCedillo Rosa E.,
Vargas Steven
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25156
Subject(s) - dysferlin , flow cytometry , cd14 , medicine , pathology , immunology , muscular dystrophy
: 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