Myotonic dystrophy and the heart: a systematic review of evaluation and management

JK Lau, RW Sy, A Corbett, L Kritharides - International journal of cardiology, 2015 - Elsevier
Myotonic dystrophy (MD) is a multisystem, autosomal dominant disorder best known for its
skeletal muscle manifestations. Cardiac manifestations arise as a result of myocardial fatty …

Myotonic dystrophy types 1 and 2

T Ashizawa, PS Sarkar - Handbook of clinical neurology, 2011 - Elsevier
Myotonic dystrophies (dystrophia myotonica, or DM) are inherited disorders characterized by
myotonia and progressive muscle degeneration, which are variably associated with a …

Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy

GS Wang, DL Kearney, M De Biasi… - The Journal of …, 2007 - Am Soc Clin Investig
Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide expansion in the 3′
untranslated region (3′ UTR) of DM protein kinase (DMPK). The key feature of DM1 …

Tissue Doppler imaging detects early asymptomatic myocardial abnormalities in a dog model of Duchenne's cardiomyopathy

V Chetboul, C Escriou, D Tessier… - European heart …, 2004 - academic.oup.com
Abstract Aims Early diagnosis of Duchenne's dilated cardiomyopathy remains a challenge
for conventional echocardiography. We sought to determine whether tissue Doppler imaging …

Cardiac pathology in myotonic dystrophy type 1

MS Mahadevan, RS Yadava, M Mandal - International journal of …, 2021 - mdpi.com
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and
children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well …

Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy

KY Lee, C Seah, C Li, YF Chen, CY Chen… - Human Molecular …, 2022 - academic.oup.com
Myotonic dystrophy (DM) is caused by expansions of C (C) TG repeats in the non-coding
regions of the DMPK and CNBP genes, and DM patients often suffer from sudden cardiac …

Primary myopathies and the heart

J Finsterer, C Stöllberger - Scandinavian Cardiovascular Journal, 2008 - Taylor & Francis
Myopathies are frequently not confined to the skeletal muscles but also involve other organs
or tissues. One of the most frequently affected organ in addition to the skeletal muscle is the …

Myotonic dystrophy: from bench to bedside

NE Johnson, CR Heatwole - Seminars in neurology, 2012 - thieme-connect.com
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant disorders
classically characterized by muscle weakness, myotonia, and early-onset cataracts. Patients …

The role of the atrial electromechanical delay in predicting atrial fibrillation in myotonic dystrophy type 1 patients

V Russo, A Rago, C Ciardiello… - Journal of …, 2016 - Wiley Online Library
Myotonic Dystrophy and Atrial Fibrillation Background Paroxysmal atrial tachyarrhythmias
frequently occur in myotonic dystrophy type 1 (DM1) patients. The aim of the current study …

Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction

M Chakraborty, E Selma-Soriano… - Disease models & …, 2015 - journals.biologists.com
Up to 80% of individuals with myotonic dystrophy type 1 (DM1) will develop cardiac
abnormalities at some point during the progression of their disease, the most common of …