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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
(Human Molecular Genetics, 2012 Vol. 21, No. 16. 3558–3567, 2012-05-30)
Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many
human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion
of a CTG ...
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1
(European Journal of Human Genetics p.1-8, 2014-07-23)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat (g.17294_17296(45_1000)) with more repeats associated with increased disease severity and reduced age at onset. Expanded disease-associated ...