[HTML][HTML] Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1

J Finsterer, C Stöllberger, M Gencik… - Revista Portuguesa de …, 2015 - Elsevier
Introduction Syncope and palpitations as the only initial manifestations of myotonic
dystrophy type 1 (MD1) due to a CTG expansion of 50–100 repeats have not been reported …

DM1 patients with small CTG expansions are also at risk of severe conduction abnormalities

M Denicourt, MT Pham, J Mathieu… - Journal of …, 2015 - content.iospress.com
Background and Objectives: A high risk of cardiac arrhythmias was reported in myotonic
dystrophy type 1 (DM1). The purpose of the study was to evaluate the risk of severe …

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

A Ballester‐Lopez, E Koehorst, M Almendrote… - Human …, 2020 - Wiley Online Library
Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has
been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes …

[HTML][HTML] Cardiovascular profile in myotonic dystrophy type 1: Analysis of a case series in a specialized center

L Gomes, T Pereira, L Martins - Revista Portuguesa de Cardiologia (English …, 2014 - Elsevier
Introduction Myotonic dystrophy is a multisystem disease associated with cardiac
abnormalities that are responsible for high morbidity and mortality. It commonly affects …

CTG Repeat Length Underlying Cardiac Events and Sudden Death in Myotonic Dystrophy Type 1

H Itoh, T Hisamatsu, K Segawa… - … Heart Journal Open, 2024 - academic.oup.com
Aims Myotonic dystrophy type 1 (DM1) is caused by the expansion of CTG repeats (CTGn) in
the DM1 protein kinase (DMPK) gene while it remains unclear whether CTGn may be …

Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy

D Furutama, N Negoro, F Terasaki… - Journal of Clinical …, 2010 - Elsevier
CTG triplet repeats of “normal” length in the myotonic dystrophy protein kinase (DMPK) gene
have been previously believed to be stable and new pathological expansion was not …

Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy

C Marchini, R Lonigro, L Verriello, L Pellizzari… - Clinical …, 2000 - Wiley Online Library
Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG
repeat, located in the 3′‐untranslated region of the DMPK gene. The number of CTG …

Relation of cardiac abnormalities and CTG‐repeat size in myotonic dystrophy

J Finsterer, E Gharehbaghi‐Schnell… - Clinical …, 2001 - Wiley Online Library
It is unclear if the severity of cardiac involvement in patients with myotonic dystrophy (MD) is
related to the size of the CTG‐repeat expansion. This open, uncontrolled, observational …

[HTML][HTML] Natural history of cardiac involvement in myotonic dystrophy type 1–Emphasis on the need for lifelong follow-up

H Petri, BJY Mohammad, AT Kristensen… - International Journal of …, 2024 - Elsevier
Background Cardiac involvement represents a major cause of morbidity and mortality in
patients with myotonic dystrophy type 1 (DM1) and prevention of sudden cardiac death …

[HTML][HTML] Cardiac manifestations of myotonic dystrophy in a pediatric cohort

L Brunet Garcia, A Hajra, E Field, J Wacher… - Frontiers in …, 2022 - frontiersin.org
Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular dystrophy in
adults. It is a multisystem disease with cardiac manifestations. Whilst these are well-defined …