Myotonic dystrophy type

Myotonic dystrophy (type 1) DMPK 19ql3 CTG Dystrophia myotonica protein kinase (DMPK)... 

Meola G, Moxley RT 3rd (2(X)4) Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 251 1173-1182... 

Kimura T, Nakamori M, Lueck JD, PouUquin P, Aoike F et al (2005) Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmrc reticulum Ca2+-ATPase in myotonic dystrophy type 1. Hum Mol Genet 14 2189-2200 Kishore S, Stamm S (2006) The snoRNA HBll-52 regulates alternative splicing of the serotonin receptor 2C. Science 311 230-232... 

Cardiovascular Intravenous procainamide had a prodysrhythmic effect when it was given as a single 1000 mg bolus during an electrophysiological study in a patient with myotonic dystrophy type 1 [SO J. During ventricular pacing, ventricular tachycardia and fibrillation occurred and required DC cardioversion. By slowing cardiac conduction, procainamide, as do other sodium channel blockers, worsens abnormalities already present in the hearts of patients with myotonic dystrophy t)q)e 1. 

Often RF, Scherschel JA, Lopshire JC, Bhakta D, Pascuzzi RM, Groh WJ. Arrhythmia exacerbation after sodium channel blockade in myotonic dystrophy type 1. Muscle Nerve 2009 40(5) 901-2. 

Hilton-Jones D, Bowler M, LochmueUer H, Longman C, Petty R, Roberts M, et al. Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1-the patients perspective. Neuromuscul Disord 2012 22(7) 597-603. 

Approximately 15% of patients receiving PMV or LTMV have NMD (37,64). NMD can be grouped into disorders involving the central nervous system, such as multiple sclerosis and amyotrophic lateral sclerosis the motor neuron, such as postpolio syndrome and amyotrophic lateral sclerosis the peripheral nerves, such as Guillain-Barre syndrome the neuromuscular junction, such as botulism and myasthenia gravis and the peripheral muscles, such as inflammatory myopathies, myotonic dystrophy type 1, and Duchenne s muscular dystrophy (40). 

Of the RNA crystal structures reported there is the structure of the known RNA ligase ribozyme, an RNA aptamer binding to its bacterial protein target Hfq, myotonic dystrophy type 1 (DMl) RNA that showed internal UU loop structures, and the structure of the CUG helix from DMl, and a structure of the Fragile X syndrome repeating r(CGG) transcript/ " A number of crystal structures of riboswitches have been reported, including dG, cyclic-di-GMP, glycine, and M-box ° riboswitches. 

Other RNA structures include the RNA claw from the DNA packaging motor from bacteriophage (p29/ the conformation of an RNA structural switch/ structures of miRNA/ the structure of the A730 loop from the Neurospora VS ribozyme/ structures or rRNA, the structure of RNA containing an internal UU loop from myotonic dystrophy type base pair opening found in the adenine tract of an RNA... 

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