Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

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 tec...

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Detalles Bibliográficos
Autores principales: Valaperta, Rea, Sansone, Valeria, Lombardi, Fortunata, Verdelli, Chiara, Colombo, Alessio, Valisi, Massimiliano, Brigonzi, Elisa, Costa, Elena, Meola, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665172/
https://www.ncbi.nlm.nih.gov/pubmed/23762868
http://dx.doi.org/10.1155/2013/958510

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