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.
Cardiac and neuromuscular parameters were used to clinically characterize our patients and support the new genetic analysis. The distribution of pathologic alleles showed a prevalence of the “classical” form, while of the 96 nonexpanded alleles 19 different allelic types were observed. Same results were obtained using several extraction procedures and different concentrations of DNA. Comparative analysis revealed that the sensitivity and the specificity of the new kit were very high (>99%).
This assay correctly identified 113/113 patients, and all were confirmed by different homemade assays. 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. We therefore developed and validated a molecular method, “ Myotonic Dystrophy SB kit,” to better characterize our DM1 population. 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. The expansion of the specific trinucleotide sequence,, is the molecular pathological mechanism responsible for the clinical manifestations of DM1.
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