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Updated: Sep 13, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats
G Novelli1, M Gennarelli, E Menegazzo
1Institute of Medical Genetics, Catholic University of Rome, Italy.
Abstract:
A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations. In this family, congenital as well as early severe childhood and later childhood onset DM coexist. This observation strengthens the limited ability of lymphocytes CTG repeat number analysis in predicting genotype-phenotype correlations in DM patients.
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