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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently establishedExpand
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Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)
A previous study in proximal myotonic myopathy (PROMM/DM-2) and myotonic dystrophy type 1 (DM-1) using brain positron emission tomography demonstrated a reduced cerebral blood flow in the frontal andExpand
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Common micro‐RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia
The aim of this work was to identify micro‐RNAs (miRNAs) involved in the pathological pathways activated in skeletal muscle damage and regeneration by both dystrophin absence and acute ischemia.Expand
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Cerebral involvement in myotonic dystrophies
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal‐dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple organ involvement, including theExpand
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Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation onExpand
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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 two distinct forms causedExpand
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GSK3β mediates muscle pathology in myotonic dystrophy.
Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease characterized by skeletal muscle wasting, weakness, and myotonia. DM1 is caused by the accumulation of CUG repeats, which alter theExpand
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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominantExpand
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Reduced cerebral blood flow and impaired visual–spatial function in proximal myotonic myopathy
Objective: To compare brain involvement in myotonic dystrophy (DM) with that of proximal myotonic myopathy (PROMM). Background: PROMM is a multisystem disease with many features in common with DM.Expand
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