Spectrum of Cancers and Their Prognosis Among Patients With Myotonic Dystrophy
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2025.26894
Abstract: This cohort study examines the distribution and survival outcomes of cancer types among patients with myotonic dystrophy, highlighting increased risks for certain cancers compared with the US general population. read more here.
Keywords: among patients; patients myotonic; cancers prognosis; myotonic dystrophy ... See more keywords
Effects of interrupting residues on DNA dumbbell structures formed by CCTG tetranucleotide repeats associated with myotonic dystrophy type 2
Sign Up to like & getrecommendations! Published in 2024 at "FEBS Letters"
DOI: 10.1002/1873-3468.14952
Abstract: Myotonic dystrophy type 2 (DM2) is a neurogenerative disease caused by caprylic/capric triglyceride (CCTG) tetranucleotide repeat expansions in intron 1 of the cellular nucleic acid‐binding protein (CNBP) gene. Non‐B DNA structures formed by CCTG repeats… read more here.
Keywords: formed cctg; cctg repeats; cctg tetranucleotide; dystrophy type ... See more keywords
RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52224
Abstract: Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM),… read more here.
Keywords: rna mis; dystrophy; physical function; myotonic dystrophy ... See more keywords
Myotonic dystrophy kinase‐related CDC42‐binding kinase α, a new transferrin receptor type 2‐binding partner, is a regulator of erythropoiesis
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Hematology"
DOI: 10.1002/ajh.26104
Abstract: Efficient erythropoiesis relies on the expression of the transferrin receptor type 2 (TFR2). In erythroid precursors, TFR2 facilitates the export of the erythropoietin receptor (EPOR) to cell surface, which ensures the survival and proliferation of… read more here.
Keywords: kinase; transferrin receptor; receptor type; myotonic dystrophy ... See more keywords
New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target
Sign Up to like & getrecommendations! Published in 2024 at "Bioessays"
DOI: 10.1002/bies.202400216
Abstract: Myotonic dystrophy type 1 (DM1) is considered a progeroid disease (i.e., causing premature aging). This hypervariable disease affects multiple systems, such as the musculoskeletal, central nervous, gastrointestinal, and others. Despite advances in understanding the underlying… read more here.
Keywords: senescence; dystrophy type; cellular senescence; myotonic dystrophy ... See more keywords
Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.70112
Abstract: Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in… read more here.
Keywords: splicing sorbs1; dystrophy type; alternative splicing; myotonic dystrophy ... See more keywords
Cognitive function and its relationship with brain structure in myotonic dystrophy type 1
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.24595
Abstract: Studies have shown relationships between white matter abnormalities and cognitive dysfunction in myotonic dystrophy type 1 (DM1), but comprehensive analysis of potential structure–function relationships are lacking. Fifty adult‐onset DM1 individuals (33 female) and 68 unaffected… read more here.
Keywords: psi; volume; dystrophy type; group ... See more keywords
Congenital myotonic dystrophy: An overlooked diagnosis not amenable to detection by sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6105
Abstract: To increase the clinical awareness of the need for genetic evaluation for congenital myotonic dystrophy (CDM1) in cases of fetal akinesia sequence and idiopathic polyhydramnios. read more here.
Keywords: myotonic dystrophy; dystrophy overlooked; congenital myotonic; overlooked diagnosis ... See more keywords
Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances
Sign Up to like & getrecommendations! Published in 2020 at "Neuroradiology"
DOI: 10.1007/s00234-020-02611-9
Abstract: Myotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological, cognitive, and radiological abnormalities. The developmental or degenerative nature of these abnormalities, and their progression over time, remains unclear. The aim of this study… read more here.
Keywords: matter; dystrophy type; study; myotonic dystrophy ... See more keywords
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
Sign Up to like & getrecommendations! Published in 2024 at "Acta Neuropathologica"
DOI: 10.1007/s00401-023-02673-y
Abstract: Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy, myotonia, and myalgia. The disease-causing CCTG tetranucleotide expansion within the CNBP gene on chromosome 3… read more here.
Keywords: mitochondrial dysfunction; dystrophy type; myotonic dystrophy;
Disease burden of myotonic dystrophy type 1
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09228-w
Abstract: ObjectiveThe objective of this cross-sectional, observational study was to investigate the disease burden of myotonic dystrophy type 1 (DM1), a disabling muscle disorder.MethodsAdults with DM1 were recruited as part of the PhenoDM1 study from Newcastle… read more here.
Keywords: dystrophy type; disease; disease burden; myotonic dystrophy ... See more keywords