Results 151 to 160 of about 1,270,049 (189)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Malignant hyperthermia and myotonic disorders
Anesthesiology Clinics of North America, 2002Advances in physiology and molecular genetics have promoted greater understanding of the various clinical manifestations of muscle disorders. For example, myotonia or profound weakness may be observed in sodium channel disease (e.g., paramyotonia congenita or hyperkalemic periodic paralysis), depending on the specific channel defect or with slight ...
Harvey K, Rosenbaum, Jordan D, Miller
openaire +2 more sources
Genetics and Physiology of the Myotonic Muscle Disorders
New England Journal of Medicine, 1993The myotonic muscle disorders represent a heterogeneous group of clinically similar diseases sharing the feature of myotonia: delayed relaxation of muscle after voluntary contraction (action myoton...
Keith Johnson, Franklin H Epstein
exaly +3 more sources
New Classification and Treatment for Myotonic Disorders
Internal Medicine, 2005 Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported.
exaly +4 more sources
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
openaire +2 more sources
Nondystrophic Myotonic Disorders
2017Nondystrophic myotonias have prominent myotonia, well-developed muscles and minimal weakness. Mobility improves with exercise. These channelopathies are transmitted as autosomal dominant or recessive traits. Electrophysiology confirms myotonia and genetic tests are available to support the diagnosis.
Satish V. Khadilkar +2 more
openaire +1 more source
Histochemistry of the Myotonic Disorders
1966Histochemical analysis of muscle biopsies from patients with myotonic disorders both confirms abnormalities that are observed by ordinary histologic techniques (such as sarcoplasmic masses) and demonstrates new changes detectable only with histochemistry (such as preferential atrophy of type I fibers).
W. King Engel, Michael H. Brooke
openaire +1 more source
Differential diagnosis of myotonic disorders
Muscle & Nerve, 2007AbstractThe presence of myotonia and paramyotonia on clinical examination and of myotonic discharges during electrodiagnostic (EDX) studies are important for the diagnosis of certain neuromuscular conditions. The increased muscle activity of myotonia produces muscle stiffness that improves with repeated activity. Paramyotonia produces a similar symptom,
openaire +2 more sources
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
openaire +1 more source