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Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm

Autor: Corrado Angelini, Massimo Gennarelli, I. Mastrogiacomo, Antonella Massari, Elisa Menegazzo, Bruno Dallapiccola, Vincenzo Silani, Antonio Pizzuti, Enzo Pagani, G. Novelli, Guglielmo Scarlato

Publikováno v: Journal of neurology. 242(6)

We have analysed the [AGC] expansion in leucocytes, muscle and sperm from 17 individuals affected by myotonic dystrophy (DM). Skeletal muscle showed a larger repeat number than leucocytes in the same patient. A similar degree of expansion was detecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc852fcd3825f1d4a674652cba74c4c0
https://pubmed.ncbi.nlm.nih.gov/7561966

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