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Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent
(2021)
Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between
mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) ...
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
(2016-04)
Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, ...
Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
(2020-06-30)
In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG)n repeat expansion is age-dependent, tissue-specific and expansion-biased. These features contribute toward variation in disease severity and confound ...
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 ...