[HTML][HTML] 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 …

[HTML][HTML] 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 …

[HTML][HTML] Central nervous system involvement as outcome measure for clinical trials efficacy in myotonic dystrophy type 1

C Simoncini, G Spadoni, E Lai, L Santoni… - Frontiers in …, 2020 - frontiersin.org
Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease),
an autosomal dominant multisystem disorder caused by a (CTG) n expansion in DMPK gene …

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 …

Myotonic dystrophy type 1: A comparison between the adult‐and late‐onset subtype

IBT Joosten, CGC Horlings, BAH Vosse… - Muscle & …, 2023 - Wiley Online Library
Abstract Introduction/Aims Although the extent of muscle weakness and organ complications
has not been well studied in patients with late‐onset myotonic dystrophy type 1 (DM1), adult …

[HTML][HTML] A Greek national cross-sectional study on myotonic dystrophies

GK Papadimas, C Papadopoulos, K Kekou… - International Journal of …, 2022 - mdpi.com
Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited
myopathies with a high prevalence across different ethnic regions. Despite some …

[HTML][HTML] Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using US insurance claims data from 2012 to 2019

SJ Howe, D Lapidus, M Hull, J Yeaw… - Orphanet journal of rare …, 2022 - Springer
Background Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects
that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine …

Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities

L Pierron, ST Du Montcel, A Heinzmann… - Journal of Medical …, 2023 - jmg.bmj.com
Background Low uptake of presymptomatic testing and medically assisted reproduction in
families impacted by neurogenetic diseases prompted us to investigate how reproductive …

[HTML][HTML] Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network

V Russo, G Antonini, R Massa, C Casali… - Journal of …, 2024 - mdpi.com
Myotonic dystrophy is a hereditary disorder with systemic involvement. The Italian Neuro-
Cardiology Network-“Rete delle Neurocardiologie”(INCN-RNC) is a unique collaborative …

[HTML][HTML] Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy

N Hu, E Kim, L Antoury, TM Wheeler - Nature Communications, 2023 - nature.com
In myotonic dystrophy type 1 (DM1), deregulated alternative splicing of the muscle chloride
channel Clcn1 causes myotonia, a delayed relaxation of muscles due to repetitive action …