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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...

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Detalles Bibliográficos
Autores principales: Mohan, Vasavi, Ahuja, Y. R., Hasan, Qurratulain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
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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