نتایج جستجو برای: myotonic discharges
تعداد نتایج: 16638 فیلتر نتایج به سال:
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM heart samples, ...
The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains important. The introduction of new pro...
A group of 26 subjects with myotonic dystrophy were studied with fluorophotometry to evaluate the relationship between aqueous humor dynamics and the hypotony found in this disorder. All 26 received topical fluorescein to determine the anterior chamber elimination coefficient; five received systemic fluorescein to evaluate the integrity of the blood-aqueous barrier. The group has a mean intraoc...
Insulin insensitivity of uncertain etiology often exists in myotonic muscular dystrophy, a multitissue, autosomal dominant disorder hypothesized to be a hereditary membrane disease. The present studies show that monocytes from patients with myotonic dystrophy fail to demonstrate the normally observed qualitative increase in insulin-binding affinity after oral glucose loading. Monocytes from 10 ...
BACKGROUND Genetic deficiency of the muscle CLC-1 chloride channel leads to myotonia, which is manifested most prominently by slowing of muscle relaxation. Humans experience this as muscle stiffness upon initiation of contraction, although this can be overcome with repeated efforts (the "warm-up" phenomenon). The extent to which CLC-1 deficiency impairs exercise activity is controversial. We hy...
OBJECTIVE To determine the number of employed people in a group of patients with neuromuscular diseases and in 3 separate subgroups (facioscapulo-humeral dystrophy, hereditary motor and sensory neuropathy, and myotonic dystrophy) to investigate any differences in employment status between the patient groups, and to identify factors related to employment status. DESIGN Cross-sectional study. ...
Hyperkalemic periodic paralysis (HyperKPP) is characterized by myotonic discharges that occur between episodic attacks of paralysis. Individuals with HyperKPP rarely suffer respiratory distress even though diaphragm muscle expresses the same defective Na(+) channel isoform (NaV1.4) that causes symptoms in limb muscles. We tested the hypothesis that the extent of the HyperKPP phenotype (low forc...
A disease consisting of persistent muscle cramps involving distal muscle groups that occurred in 12 members of the same family is described. The cramps appeared on exertion and in full relaxation or during sleep. In the third generation they appeared in the second decade; in the fourth and fifth generations in childhood with higher frequency and intensity of cramps. The disease is not sex linke...
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the m...
Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation muscle” leading symptom DM1 and can occur at time after onset disease. symptoms electrical registration are delayed with congenital infantile forms DM1. This makes it difficult to diagnose prevent fatal complications these a timely manner. Objective: presentati...
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