Article
Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.
BioMed research international - 1 Jan 2013
Valaperta Rea, Sansone Valeria, Lombardi Fortunata, Verdelli Chiara, Colombo Alessio, Valisi Massimiliano, Brigonzi Elisa, Costa Elena, Meola Giovanni
Abstract excerpt
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...
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