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Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
OBJECTIVE: Assess triplet repeat expansion (CTG)(n) at the ‘dystrophia-myotonica protein kinase’ (DMPK) locus in muscular myopathies to elucidate its role in myopathic symptoms and enable genetic counseling and prenatal diagnosis in families. METHODS AND RESULTS: Individuals with symptoms of myopath...
Autores principales: | Mohan, Vasavi, Ahuja, Y. R., Hasan, Qurratulain |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611902/ https://www.ncbi.nlm.nih.gov/pubmed/23560000 http://dx.doi.org/10.4103/1817-1745.106471 |
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