Systemic delivery of antisense oligonucleotides neutralizes mutant RNA...
By targeting the specific mutation that causes the hereditary neuromuscular disease myotonic dystrophy, it is possible to neutralize the mutant RNA toxicity and minimize or even eliminate the disabling...
View ArticleIsis Pharmaceuticals begins ISIS-DMPK Rx clinical study in DM1 patients
Isis Pharmaceuticals, Inc. announced today that it has initiated a study for ISIS-DMPK Rx in patients with Myotonic Dystrophy Type 1 (DM1). DM1 is a rare genetic neuromuscular disease caused by the...
View ArticleStudy identifies potential genetic link in sudden infant death syndrome
Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy...
View ArticleStudy reveals mechanisms that cause muscle weakness in patients with Becker...
Muscle weakness in patients with Becker disease is caused by unusual electrical activity in muscle fibres termed 'plateau potentials' that make them temporarily inactive, says a study published today...
View ArticleA new 3D model for myotonic dystrophy
Myotonic dystrophy is a hereditary degenerative neuromuscular disease that occurs mainly in adults, affecting about 50,000 people only in Spain.
View ArticleMouse model reveals link between GABA receptors and sleepiness in people with...
People with the inherited disorder myotonic dystrophy (DM) often experience excessive daytime sleepiness and fatigue, as well as altered responses to anesthetics that can put them at risk for...
View ArticleNext-generation sequencing provides novel insights into the mechanisms...
The pathomechanistic connection between autism and myotonic muscular dystrophy type 1.
View ArticleCalcium channel blockers reverse muscle weakness in animal model of myotonic...
New research has identified the specific biological mechanism behind the muscle dysfunction found in myotonic dystrophy type 1 (DM1) and further shows that calcium channel blockers can reverse these...
View ArticleATP regulation in ClC-3 exchangers linked to neurodegenerative diseases,...
Researchers structurally analyzed adenine nucleotide control and neurodegenerative diseases in ClC-3 exchangers.
View ArticleA randomized trial of mexiletine and lamotrigine in adults with...
The study, published in Lancet Neurology, detailed the "head-to-head" trial implemented by the researchers to test two drugs, mexiletine and lamotrigine, on people with the condition.
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