Characteristics of Intergenerational Contractions of the CTG Repeat in Myotonic Dystrophy

In myotonic dystrophy (DM), the size of a CTG repeat in the DM kinase gene generally increases in successive generations with clinical evidence of anticipation. However, there have also been cases with an intergenerational contraction of the repeat. We examined 1,489 DM parent-offspring pairs, of wh...

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Autors principals: Ashizawa, T., Anvret, M., Baiget, M., Barceló, J. M., Brunner, H., Cobo, A. M., Dallapiccola, B., Fenwick, R. G., Grandell, U., Harley, H., Junien, C., Koch, M. C., Korneluk, R. G., Lavedan, C., Miki, T., Mulley, J. C., de Munain, A. López, Novelli, G., Roses, A. D., Seltzer, W. K., Shaw, D. J., Smeets, H., Sutherland, G. R., Yamagata, H., Harper, P. S.
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918128/
https://ncbi.nlm.nih.gov/pubmed/8116611
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