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Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat located in the 3′-UTR of (DMPK) the DM protein kinase gene. Patients with DM1 have expansions of greater than 50 repeats and up to many thousands. In the present study we aimed to evaluate the utility of TP-PCR in d...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi Publishing Corporation
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970441/ https://www.ncbi.nlm.nih.gov/pubmed/24715907 http://dx.doi.org/10.1155/2014/289643 |