The myotonic dystrophies: molecular, clinical, and therapeutic challenges
B Udd, R Krahe - The Lancet Neurology, 2012 - thelancet.com
Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
[HTML][HTML] Core clinical phenotypes in myotonic dystrophies
S Wenninger, F Montagnese, B Schoser - Frontiers in neurology, 2018 - frontiersin.org
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent
multisystemic muscular dystrophies in adulthood. They are progressive, autosomal …
multisystemic muscular dystrophies in adulthood. They are progressive, autosomal …
Arrhythmias in the muscular dystrophies
WJ Groh - Heart rhythm, 2012 - Elsevier
The muscular dystrophies are a group of inherited diseases affecting skeletal muscle that
also affect cardiac muscle. Cardiac involvement occurs as a degenerative process with …
also affect cardiac muscle. Cardiac involvement occurs as a degenerative process with …
Diagnostic odyssey of patients with myotonic dystrophy
JE Hilbert, T Ashizawa, JW Day, EA Luebbe… - Journal of …, 2013 - Springer
The onset and symptoms of the myotonic dystrophies are diverse, complicating their
diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes …
diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes …
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and
CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere …
CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere …
[HTML][HTML] Myotonic dystrophy type 2: the 2020 update
G Meola - Acta Myologica, 2020 - ncbi.nlm.nih.gov
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy.
Phenotypes of DM1 and DM2 are similar, but there are some important differences …
Phenotypes of DM1 and DM2 are similar, but there are some important differences …
Deregulated microRNAs in myotonic dystrophy type 2
Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the
expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal …
expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal …
Myotonic dystrophies type 1 and 2: anesthetic care
F Veyckemans, JL Scholtes - Pediatric Anesthesia, 2013 - Wiley Online Library
Myotonic dystrophy is classified as one of the myotonic syndromes although myotonia is
only a minor characteristic of it. It is, in fact, also a multisystem disease with cardiac …
only a minor characteristic of it. It is, in fact, also a multisystem disease with cardiac …
[HTML][HTML] Myotonic disorders: A review article
C Hahn, MK Salajegheh - Iranian journal of neurology, 2016 - ncbi.nlm.nih.gov
The myotonic disorders are a heterogeneous group of genetically determined diseases that
are unified by the presence of myotonia, which is defined as failure of muscle relaxation after …
are unified by the presence of myotonia, which is defined as failure of muscle relaxation after …