myotonic dystrophy/カリウム

Myotonic dystrophy type 1 (DM1) is the most frequently inherited neuromuscular disease in adults. It is a multisystemic disorder with major cardiac involvement most commonly represented by first-degree atrioventricular heart block (AVB), followed by different degrees of bundle-branch and

Muscle wasting in myotonic dystrophy appears to reflect impaired anabolism rather than accelerated catabolism. We therefore investigated the effects of testosterone, an anabolic hormone, on muscle mass as estimated by creatinine excretion and total body potassium in nine patients with myotonic

The whole-cell patch clamp technique was used to record potassium currents in in vitro differentiating myoblasts isolated from healthy and myotonic dystrophy type 1 (DM1) foetuses carrying 2000 CTG repeats. The fusion of the DM1 myoblasts was reduced in comparison to that of the control cells. The

An RNA gain-of-function of expanded transcripts is the most accredited molecular mechanism for myotonic dystrophy type 1 (DM1) and 2 (DM2). To disclose molecular parallels and divergences in pathogenesis of both disorders, we compared the expression profile of muscle biopsies from DM1 and DM2

Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene. DM1 is a variable multisystem disorder with muscular and nonmuscular abnormalities.

The SK3 channel, a small-conductance calcium-activated potassium channel, is expressed in immature fibers of skeletal muscle and becomes down regulated after innervation. We have previously shown that the level of mRNA of the SK3 channel is increased in muscle from myotonic dystrophy. In this study,

Myotonic dystrophy or Steinert's disease is an autosomal dominant hereditary disease affecting the entire system. Apart from the myotonic phenomenon it involves muscular atrophy, endocrine disorders, baldness, cardiac arrhythmias, hyperglycaemia, cataracts. Over the years a number of drugs have been

Serum electrolytes were measured in 14 patients with myotonic dystrophy and 25 healthy controls. The serum level of sodium was 144.8 +/- 3.2 (mean +/- SD) mEq/l in myotonic dystrophy and 142.0 +/- 1.9 mEq/l in the controls, and the level of potassium was 4.6 +/- 0.4 mEq/l and 4.0 +/- 0.3 mEq/l,

3-Methylhistidine (3-MH) excretion reflects the rate of muscle protein catabolism, since 3-MH occurs almost exclusively in muscle actin and myosin and is not reutilized or catabolized. We studied 3-MH excretion in 9 patients with myotonic dystrophy, 8 normals, and 10 disease controls with Duchenne

We studied the basal metabolic rate in 13 males with myotonic dystrophy and 14 normal male subjects. Basal O2 consumption (VO2) and CO2 production (VCO2) were measured by direct gas analysis with a ventilated hood system. Lean body mass was estimated by total body potassium (40K method) and muscle

Progressively increasing concentrations of potassium chloride were administered intra-arterially to patients affected with dystrophia myotonica (Steinert's disease) and to healthy volunteers before and after parenteral taurine treatment. Changes in the excitability of thenar eminence muscles were

Progressively increasing concentrations of potassium chloride in Evans blue saline were administered to patients affected with myotonic dystrophy and to healthy volunteers before and after parenteral treatment with taurine. Excitability changes of thenar eminence muscles were related to the venous

Myotonic dystrophy is frequently associated with testicular atrophy. Since androgens may play a role in the maintenance of muscle mass, we have studied the levels of plasma testosterone and gonadotropins and of urinary 17-ketosteroids in 22 men with myotonic dystrophy, 36 normal men, and 16 men

Myotonic dystrophy (MyD) is a common genetic neuromuscular disorder in which chromosome 19 gives rise to an abnormal expansion of CTG-trinucleotide repeats. MyD is a highly variable multisystem disorder with muscular and nonmuscular abnormalities. Increasingly, endocrine abnormalities, such as