نتایج جستجو برای: myotonic dystrophy
تعداد نتایج: 22886 فیلتر نتایج به سال:
Mutations in amphiphysin-2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads. Mis-splicing of amphiphysin-2/BIN1 is also associated with myotonic dystrophy that shares histopathological hallmarks with CNM. How amphiphysin-2 orchestrates nuclear positioning...
There is considerable confusion in the literature about the size of the myotonic dystrophy protein kinase (DMPK) and its localization within tissues. We have used a new panel of monoclonal antibodies (mAbs) to begin to resolve these issues, which are important for understanding the possible role of DMPK in myotonic dystrophy. Antisera raised against the catalytic and coil domains of DMPK recogn...
The causative mutation in the majority of cases of myotonic dystrophy has been shown to be the expansion of a CTG trinucleotide repeat, but the mechanism(s) by which this repeat leads to the very complex symptomatology in this disorder remains controversial. We have developed a highly sensitive and quantifiable assay, based on competitive RT-PCR, to test the hypothesis that the expansion disrup...
A workshop entitled Illuminating CNS and Cognitive Issues in Myotonic Dystrophy, sponsored by the Marigold Foundation, was held in Toronto in May, 2012. Participants included 24 clinicians, scientists and patient representatives from six countries and from diverse fields of myotonic dystrophy type 1 (DM1) research. The purpose was to promote a more accurate understanding of DM1 pathology [1], t...
A sporadic Japanese case of myotonia congenita with painful muscle cramps is reported. Electromyographic examinations disclosed myotonic discharge with dive bomber sounds at insertion, and high-amplitude, high-frequency motor unit potentials during the muscle cramps. Biopsied muscle specimens and EMGfindings showednon-specific mild myopathic changes. There was no abnormal expansion of CTGrepeat...
Background Myotonic dystrophy type II (formerly denoted as proximal myotonic myopathy (PROMM)) is an autosomal dominantly inherited disease [1]. Sufferers are afflicted with skeletal muscle (SM) symptoms. Histopathologic changes of the SM include mild fibrosis and fatty degeneration[2]. The multisystemic disorder is also characterized by endocrine and metabolism disorder such as hypercholestero...
The 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, but the stiffness paradoxically increases with ac...
A patient with marked manifestations of myotonic dystrophy presented for surgical correction of cataracts. Propofol was used as part of the anaesthetic technique. The patient demonstrated marked sensitivity to its central depressant effects.
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