Myotonic dystrophy type 2: an update on clinical aspects, genetic and pathomolecular mechanism

G Meola, R Cardani - Journal of neuromuscular diseases, 2015 - content.iospress.com
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27–29 June 2014, Naarden, The …

VA Sansone, C Gagnon - Neuromuscular Disorders, 2015 - Elsevier
Fourteen participants from Italy, France, Germany, The Netherlands, the UK, Canada and
the US met in Naarden, The Netherlands, to discuss the diagnostic protocols and …

Consensus-based care recommendations for adults with myotonic dystrophy type 2

B Schoser, F Montagnese, G Bassez… - Neurology: Clinical …, 2019 - AAN Enterprises
Purpose of review Myotonic dystrophy type 2 (DM2) is a rare, progressive multisystem
disease particularly affecting the skeletal muscle. A causal therapy is not yet available; …

The dystrophic and nondystrophic myotonias

VA Sansone - CONTINUUM: Lifelong Learning in Neurology, 2016 - journals.lww.com
Abstract Purpose of Review: This article describes clinical and electrical myotonia and
provides an update on the classification, diagnosis, and management of myotonic disorders …

Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2

F Montagnese, S Mondello, S Wenninger, W Kress… - Journal of …, 2017 - Springer
This study aims to provide a detailed clinical characterization of a large cohort of myotonic
dystrophy type 2 (DM2) patients investigating the influence of age and gender as modifying …

Cardiac involvement in myotonic dystrophy type 2 patients with preserved ejection fraction: detection by cardiovascular magnetic resonance

L Schmacht, J Traber, U Grieben, W Utz… - Circulation …, 2016 - Am Heart Assoc
Background—Myotonic dystrophy type 2 (DM2) is a genetic disorder characterized by
skeletal muscle symptoms, metabolic changes, and cardiac involvement. Histopathologic …

Myotonic dystrophies: a genetic overview

P Soltanzadeh - Genes, 2022 - mdpi.com
Myotonic dystrophies (DM) are the most common muscular dystrophies in adults, which can
affect other non-skeletal muscle organs such as the heart, brain and gastrointestinal system …

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects

G Meola, R Cardani - Neurological Sciences, 2017 - Springer
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date …

[HTML][HTML] Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study

H Petri, KA Ahtarovski, N Vejlstrup, J Vissing… - Journal of …, 2014 - Elsevier
Background Myotonic dystrophy type 1 (DM1) is associated with increased cardiac morbidity
and mortality. Therefore, assessment of cardiac involvement and risk stratification for sudden …

[HTML][HTML] Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes

EY Kim, DY Barefield, AH Vo, AM Gacita, EJ Schuster… - JCI insight, 2019 - ncbi.nlm.nih.gov
Myotonic dystrophy (DM) is the most common autosomal dominant muscular dystrophy and
encompasses both skeletal muscle and cardiac complications. DM is nucleotide repeat …