Cognitive phenotype of childhood myotonic dystrophy type 1: A multicenter pooled analysis
Muscle and Nerve, 2023 There is clear evidence for brain involvement in childhood myotonic dystrophy type 1 (DM1) from imaging studies and the prevalence of intellectual impairment and neurodevelopmental disorders.
D. Sweere +5 more
semanticscholar +1 more source
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Cell Reports, 2017 Summary: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively.
Masayuki Nakamori +8 more
doaj +1 more source
Aurintricarboxylic Acid Decreases RNA Toxicity in a C. elegans Model of Repeat Expansions
Toxins, 2021 Pathologic expansions of DNA nucleotide tandem repeats may generate toxic RNA that triggers disease phenotypes. RNA toxicity is the hallmark of multiple expansion repeat disorders, including myotonic dystrophy type 1 (DM1).
Maya Braun +3 more
doaj +1 more source
Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle. [PDF]
, 2016 Electrical membrane properties of skeletal muscle fibers have been thoroughly studied over the last five to six decades. This has shown that muscle fibers from a wide range of species, including fish, amphibians, reptiles, birds, and mammals, are all ...
Chen, Tsung-Yu +4 more
core +1 more source
Development of Therapeutic Approaches for Myotonic Dystrophies Type 1 and Type 2
International Journal of Molecular Sciences, 2022 Myotonic Dystrophies type 1 (DM1) and type 2 (DM2) are complex multisystem diseases without disease-based therapies. These disorders are caused by the expansions of unstable CTG (DM1) and CCTG (DM2) repeats outside of the coding regions of the disease ...
L. Timchenko
semanticscholar +1 more source
The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. [PDF]
PLoS ONE, 2012 Myotonic dystrophy type 2 (DM2) is a subtype of the myotonic dystrophies, caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the zinc finger protein 9 (ZNF9) gene.
Tatsuaki Kurosaki +5 more
doaj +1 more source
Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2
European Journal of Histochemistry, 2009 Myotonic dystrophies (DM) are repeat expansion diseases in which expanded CTG (DM1) and CCTG (DM2) repeats cause the disease. Mutant transcripts containing CUG/CCUG repeats are retained in muscle nuclei producing ribonuclear inclusions, which can bind ...
R Cardani +4 more
doaj +1 more source
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
doaj +1 more source
Pharmaceutics, 2023 Nucleic acid therapeutics, specifically antisense oligonucleotides (ASOs), can effectively modulate gene expression and protein function, leading to long-lasting curative effects.
Raghav Gupta +6 more
doaj +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source