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Myotonic Dystrophy (DM)
Myotonic dystrophy, comprising type 1 (DM1) and type 2 (DM2), is the most common form of muscular dystrophy, characterized by multisystemic... -
CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I
BackgroundMyotonic Dystrophy type I (DM1) is the most common muscular dystrophy in adults. Previous reports have highlighted that neuromuscular...
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Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy,...
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Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release
Myotonic dystrophy type 2 (DM2) is a tetranucleotide CCTG repeat expansion disease associated with an increased prevalence of autoimmunity. Here, we...
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Sleep Disorders and Fatigue in Patients with Different Forms of Myotonic Dystrophy Type 1
Objectives . To characterize sleep disorders in children and adults with different forms of myotonic dystrophy type 1 (DM1) and to evaluate their...
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Update on Therapy for Myotonic Dystrophy Type 1
Purpose of reviewThis review aimed to summarize the clinical characteristics of myotonic dystrophy type 1 and to provide a comprehensive review of...
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Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
BackgroundAs the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are...
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Myotonic Dystrophies
Myotonic dystrophies (DM) are the most common muscular dystrophies in adults. They include myotonic dystrophy type 1 (DM1) or Steinert’s disease, and... -
Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles
BackgroundSeverity and nature of cognitive impairments in Myotonic dystrophy type 1 (DM1) are heterogeneous among studies. We hypothesized that this...
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Peptide-Conjugated PMOs for the Treatment of Myotonic Dystrophy
AntisenseAntisense oligonucleotides (ASOs) have shown great therapeutic potential in the treatment of many neuromuscular diseasesDiseases including... -
Current Treatment Options for Patients with Myotonic Dystrophy Type 2
Purpose of the reviewMyotonic dystrophy types 1 and 2 are frequent forms of muscular dystrophies in adulthood. Their clinical differences need to be...
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Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy
In myotonic dystrophy type 1 (DM1), deregulated alternative splicing of the muscle chloride channel Clcn1 causes myotonia, a delayed relaxation of...
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Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1
Muscle stem cells, the engine of muscle repair, are affected in myotonic dystrophy type 1 (DM1); however, the underlying molecular mechanism and the...
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Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models
BackgroundWe recently reported that upregulation of Musashi 2 (MSI2) protein in the rare neuromuscular disease myotonic dystrophy type 1 contributes...
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Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Myotonic dystrophy type 1 (DM1) is a severe autosomal dominant neuromuscular disease in which the musculoskeletal system contributes substantially to...
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Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
Background and purposeMyotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion...
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DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
Myotonic dystrophy type 1 (DM1) is an autosomal dominant muscular dystrophy that results from a CTG expansion (50–4000 copies) in the 3′ UTR of the DMPK...
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Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
AimMuscular dystrophy (MD) is a progressive disease with predominantly muscular symptoms. Myotonic dystrophy type II (MD2) and facioscapulohumeral...
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Loss of MBNL1-mediated retrograde BDNF signaling in the myotonic dystrophy brain
Reduced brain volume including atrophy in grey and white matter is commonly seen in myotonic dystrophy type 1 (DM1). DM1 is caused by an expansion of...