Results 191 to 200 of about 2,985,698 (230)
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Handbook of Clinical Neurology, 2007
Frank, Lehmann-Horn, Karin, Jurkat-Rott
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Frank, Lehmann-Horn, Karin, Jurkat-Rott
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Neurology India, 2008
Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause
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Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause
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Myotonic dystrophy—a multigene disorder
Brain Research Bulletin, 2001Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy with an estimated incidence of 1/8000 births. The mutation responsible for this condition is an expanded CTG repeat within the 3' untranslated region of the protein kinase gene DMPK.
K, Larkin, M, Fardaei
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Continuum, 2022
PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs.
Johanna I Hamel
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PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs.
Johanna I Hamel
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Phenotype and genotype in the myotonic disorders
Muscle & Nerve, 1998R. Barchi
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Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy
NeurologyBackground and Objectives Muscular dystrophies and myotonic disorders are genetic disorders characterized by progressive skeletal muscle degeneration and weakness.
Carolina Maya-González +5 more
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DISORDERS OF EYE MOVEMENT IN MYOTONIC DYSTROPHY
Brain, 1990Horizontal saccades and smooth pursuit eye movements were studied in 26 patients with myotonic dystrophy. Clinical neuro-ophthalmological investigations in 1 patient revealed an inability to achieve a full range of eye movements. Electro-oculography showed a significant decrease of the maximum velocity of the visually-guided saccades in 83% of the ...
J P, Ter Bruggen +3 more
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Myopathies and Myotonic Disorders
2017Myopathies are a clinically and genetically heterogeneous group of disorders with a wide spectrum of symptom onset and severity as well as a range of morbidity and mortality. In childhood, myopathies are most commonly due to genetic mutations, with acquired disease being a less frequent cause.
Jiri Vajsar +2 more
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