Myotonic dystrophy
JI Hamel - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …
Modifiers of CAG/CTG repeat instability: insights from mammalian models
VC Wheeler, V Dion - Journal of Huntington's disease, 2021 - content.iospress.com
At fifteen different genomic locations, the expansion of a CAG/CTG repeat causes a
neurodegenerative or neuromuscular disease, the most common being Huntington's …
neurodegenerative or neuromuscular disease, the most common being Huntington's …
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Long-read HiFi genome sequencing allows for accurate detection and direct phasing of
single nucleotide variants, indels, and structural variants. Recent algorithmic development …
single nucleotide variants, indels, and structural variants. Recent algorithmic development …
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
J Deng, B Zhou, J Yu, X Han, J Fu, X Li, X Xie… - Journal of medical …, 2022 - jmg.bmj.com
Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal
intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore …
intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore …
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTGexp) disorder
caused by expression of CUGexp RNAs. These mutant RNAs alter the activities of RNA …
caused by expression of CUGexp RNAs. These mutant RNAs alter the activities of RNA …
[HTML][HTML] Molecular genetics of congenital myotonic dystrophy
S Lanni, CE Pearson - Neurobiology of disease, 2019 - Elsevier
Abstract Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong
genetic anticipation, and is caused by the expansion of a CTG repeat tract in the 3′-UTR of …
genetic anticipation, and is caused by the expansion of a CTG repeat tract in the 3′-UTR of …
Abnormalities in skeletal muscle myogenesis, growth, and regeneration in myotonic dystrophy
LM André, CRM Ausems, DG Wansink… - Frontiers in …, 2018 - frontiersin.org
Myotonic dystrophy type 1 (DM1) and 2 (DM2) are autosomal dominant degenerative
neuromuscular disorders characterized by progressive skeletal muscle weakness, atrophy …
neuromuscular disorders characterized by progressive skeletal muscle weakness, atrophy …
Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
F Morales, M Vásquez, E Corrales… - Human molecular …, 2020 - academic.oup.com
In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG) n repeat expansion is
age-dependent, tissue-specific and expansion-biased. These features contribute toward …
age-dependent, tissue-specific and expansion-biased. These features contribute toward …
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 …
affect other non-skeletal muscle organs such as the heart, brain and gastrointestinal system …
Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus
T Handal, S Juster, M Abu Diab… - Nature …, 2024 - nature.com
Epigenetic defects caused by hereditary or de novo mutations are implicated in various
human diseases. It remains uncertain whether correcting the underlying mutation can …
human diseases. It remains uncertain whether correcting the underlying mutation can …