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 …

[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms

G Meola, R Cardani - Biochimica et Biophysica Acta (BBA)-Molecular Basis …, 2015 - Elsevier
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
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 …

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 …

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 …

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

C Sellier, E Cerro-Herreros, M Blatter… - Nature …, 2018 - nature.com
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 …

[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 …

Deregulated microRNAs in myotonic dystrophy type 2

S Greco, A Perfetti, P Fasanaro, R Cardani… - PloS one, 2012 - journals.plos.org
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 …

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 …

[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 …