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Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments
Joint Authors
Valaperta, Rea
Sansone, Valeria
Lombardi, Fortunata
Verdelli, Chiara
Colombo, Alessio
Valisi, Massimiliano
Brigonzi, Elisa
Costa, Elena
Meola, Giovanni
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-05-09
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
The expansion of the specific trinucleotide sequence, [CTG], is the molecular pathological mechanism responsible for the clinical manifestations of DM1.
Many studies have described different molecular genetic techniques to detect DM1, but as yet there is no data on the analytical performances of techniques used so far in this disease.
We therefore developed and validated a molecular method, “Myotonic Dystrophy SB kit,” to better characterize our DM1 population.
113 patients were examined: 20 DM1-positive, 11 DM1/DM2-negative, and13 DM1-negative/DM2-positive, who had a previous molecular diagnosis, while 69 were new cases.
This assay correctly identified 113/113 patients, and all were confirmed by different homemade assays.
Comparative analysis revealed that the sensitivity and the specificity of the new kit were very high (>99%).
Same results were obtained using several extraction procedures and different concentrations of DNA.
The distribution of pathologic alleles showed a prevalence of the “classical” form, while of the 96 nonexpanded alleles 19 different allelic types were observed.
Cardiac and neuromuscular parameters were used to clinically characterize our patients and support the new genetic analysis.
Our findings suggest that this assay appears to be a very robust and reliable molecular test, showing high reproducibility and giving an unambiguous interpretation of results.
American Psychological Association (APA)
Valaperta, Rea& Sansone, Valeria& Lombardi, Fortunata& Verdelli, Chiara& Colombo, Alessio& Valisi, Massimiliano…[et al.]. 2013. Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments. BioMed Research International،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1005514
Modern Language Association (MLA)
Valaperta, Rea…[et al.]. Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments. BioMed Research International No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-1005514
American Medical Association (AMA)
Valaperta, Rea& Sansone, Valeria& Lombardi, Fortunata& Verdelli, Chiara& Colombo, Alessio& Valisi, Massimiliano…[et al.]. Identification and Characterization of DM1 Patients by a NewDiagnostic Certified Assay: Neuromuscular and Cardiac Assessments. BioMed Research International. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-1005514
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1005514