Deregulation of microRNAs in blood and skeletal muscles of myotonic dystrophy type 1 patients
Methods: We evaluated the expression patterns of 11 candidate miRNAs using quantitative
real-time PCR in whole blood (n= 10) and muscle biopsy samples (n= 9) of DM1 patients …
real-time PCR in whole blood (n= 10) and muscle biopsy samples (n= 9) of DM1 patients …
Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up
Background Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized by
progressive cardiac conduction impairment, arrhythmias, and sudden death. Mexiletine is a …
progressive cardiac conduction impairment, arrhythmias, and sudden death. Mexiletine is a …
Myotone Dystrophien: Klinik, Pathogenese, Diagnostik und Therapie
J Finsterer… - Fortschritte der Neurologie …, 2015 - thieme-connect.com
Die autosomal dominanten dystrophischen Myotonien dystrophia myotonica Typ-1 (DM1,
Curschmann-Steinert-Erkrankung) und dystrophia myotonica Typ-2 (DM2, proximale …
Curschmann-Steinert-Erkrankung) und dystrophia myotonica Typ-2 (DM2, proximale …
The added value of cardiac magnetic resonance in muscular dystrophies
MM Lamacie, J Warman-Chardon… - Journal of …, 2019 - content.iospress.com
Muscular dystrophies (MD) represent a heterogeneous group of rare genetic diseases that
often lead to significant weakness due to progressive muscle degeneration. In many forms of …
often lead to significant weakness due to progressive muscle degeneration. In many forms of …
Rare disease: cardiac risk assessment with MRI in patients with myotonic dystrophy type 1
Introduction: To evaluate myocardial strain and extracellular volume in myotonic dystrophy
type 1 (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology …
type 1 (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology …
Comprehensive cardiac magnetic resonance for assessment of cardiac involvement in myotonic muscular dystrophy type 1 and 2 without known cardiovascular …
JA Luetkens, C von Landenberg, A Isaak… - Circulation …, 2019 - Am Heart Assoc
1.6±2.6; P= 0.582). Native T1 relaxation times were prolonged in DM patients compared with
control subjects (1018.8±37.9 versus 970.3±29.9 ms; P< 0.0001). ECV measures were also …
control subjects (1018.8±37.9 versus 970.3±29.9 ms; P< 0.0001). ECV measures were also …
Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1. 5 sodium channel loss-of-function mutation
T Pambrun, A Mercier, A Chatelier, S Patri, JJ Schott… - Heart Rhythm, 2014 - Elsevier
Background Myotonic dystrophy type 1 (DM1), a muscular dystrophy due to CTG expansion
in the DMPK gene, can cause cardiac conduction disorders and sudden death. These …
in the DMPK gene, can cause cardiac conduction disorders and sudden death. These …
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: a multicentre cohort follow-up study
MJ Hamilton, Y Robb, S Cumming, H Gregory… - Plos one, 2017 - journals.plos.org
Objective High sensitivity plasma cardiac troponin-I (cTnI) is emerging as a strong predictor
of cardiac events in a variety of settings. We have explored its utility in patients with myotonic …
of cardiac events in a variety of settings. We have explored its utility in patients with myotonic …
Outcome measures frequently used to assess muscle strength in patients with myotonic dystrophy type 1: a systematic review
Measurement of muscle strength is fundamental for the management of patients with
myotonic dystrophy type 1 (DM1). Nevertheless, guidance on this topic is somewhat limited …
myotonic dystrophy type 1 (DM1). Nevertheless, guidance on this topic is somewhat limited …
Neuromuscular diseases and their cardiac manifestations under the spectrum of cardiovascular imaging
GM Alexandridis, ED Pagourelias, N Fragakis… - Heart Failure …, 2022 - Springer
Neuromuscular diseases (NMDs) include a broad spectrum of disorders that affect motor
unit in every possible site, extending from the cell body of peripheral nerves to the muscle …
unit in every possible site, extending from the cell body of peripheral nerves to the muscle …