Gender effect on cardiac involvement in myotonic dystrophy type 1

2020 ◽  
Author(s):  
Matteo Garibaldi ◽  
Antonio Lauletta ◽  
Elisabetta Bucci ◽  
Laura Fionda ◽  
Fiammetta Vanoli ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Gender Effect ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1

2005 ◽  
Vol 31 (6) ◽  
pp. 719-724 ◽  
Author(s):  
William J. Groh ◽  
Miriam R. Lowe ◽  
Zachary Simmons ◽  
Deepak Bhakta ◽  
Robert M. Pascuzzi
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Familial Clustering

High prevalence of cardiac involvement in patients with myotonic dystrophy type 1: A cross-sectional study

2014 ◽  
Vol 174 (1) ◽  
pp. 31-36 ◽  
Author(s):  
Helle Petri ◽  
Nanna Witting ◽  
Mads Kristian Ersbøll ◽  
Ahmad Sajadieh ◽  
Morten Dunø ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Cross Sectional Study ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Sectional Study ◽  
Cross Sectional ◽  
High Prevalence

Correlation between mutation size and cardiac involvement in myotonic dystrophy type 1: An analysis of the DM1-heart registry

2016 ◽  
Vol 26 ◽  
pp. S194
Author(s):  
K. Wahbi ◽  
C. Chong-Nguyen ◽  
V. Algalarrondo ◽  
P. Laforet ◽  
D. Furling ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

2013 ◽  
Vol 2013 ◽  
pp. 1-13 ◽  
Author(s):  
Dušanka Savić Pavićević ◽  
Jelena Miladinović ◽  
Miloš Brkušanin ◽  
Saša Šviković ◽  
Svetlana Djurica ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Genetics ◽  
Myotonic Dystrophy ◽  
Age At Onset ◽  
Gender Effect ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Ctg Repeats ◽  
Parental Gender

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3′-UTR of theDMPKgene, with the number of repeats ranging from 50 to several thousand. The number of CTG repeats broadly correlates with both the age-at-onset and overall severity of the disease. Expanded DM1 alleles are characterized by a remarkable expansion-biased and gender-specific germline instability, and tissue-specific, expansion-biased, age-dependent, and individual-specific somatic instability. Mutational dynamics in male and female germline account for observed anticipation and parental-gender effect in DM1 pedigrees, while mutational dynamics in somatic tissues contribute toward the tissue-specificity and progressive nature of the disease. Genetic test is routinely used in diagnostic procedure for DM1 for symptomatic, asymptomatic, and prenatal testing, accompanied with appropriate genetic counseling and, as recommended, without predictive information about the disease course. We review molecular genetics of DM1 with focus on those issues important for genetic testing and counseling.

scholarly journals Cardiac fibrosis in myotonic dystrophy type 1; an early marker of cardiac involvement

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P2987-P2987
Author(s):  
H. Petri ◽  
K. A. Ahtarovski ◽  
N. Witting ◽  
J. Vissing ◽  
L. Koeber ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Fibrosis ◽  
Cardiac Involvement ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Early Marker

Association between mutation size and cardiac involvement in myotonic dystrophy type 1: an analysis of the DM1-heart registry

2017 ◽  
Vol 27 ◽  
pp. S178-S179
Author(s):  
K. Wahbi ◽  
C. Chong-Nguyen ◽  
V. Algalarrondo ◽  
H. Becane ◽  
P. Arnaud ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

scholarly journals Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1

2017 ◽  
Vol 10 (3) ◽  
Author(s):  
Caroline Chong-Nguyen ◽  
Karim Wahbi ◽  
Vincent Algalarrondo ◽  
Henri Marc Bécane ◽  
Hélène Radvanyi-Hoffman ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Apical left ventricular myocardial dysfunction is an early feature of cardiac involvement in myotonic dystrophy type 1

2017 ◽  
Vol 34 (2) ◽  
pp. 184-190 ◽  
Author(s):  
Rodrigue Garcia ◽  
Quentin Labarre ◽  
Bruno Degand ◽  
Pierre Ingrand ◽  
François Le Gal ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Cardiac Involvement ◽  
Myocardial Dysfunction ◽  
Left Ventricular ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type
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