Glycobiology of neuromuscular disorders
نویسندگان
چکیده
منابع مشابه
Neuromuscular Disorders
Disorders of the neuromuscular unit can result in clinical presentations that range from subtle symptoms to acute respiratory failure with significant morbidity and mortality. In most cases, the pathophysiologic mechanism of these disorders is well understood and permits an organization and understanding based on the level of the nervous system affected. This facilitates an approach that interp...
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OBJECTIVE: To discuss the most important aspects for the performance of a differential diagnosis among the main neuromuscular disorders in children, which include diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers. SOURCES: The review of the clinical aspects that should be considered for a prompt differential diagnosis am...
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This book, Volume 306 in the series Progress in Clinical and Biological Research, is the record of the Fifth Inernational Clinical Genetics Seminar held in Crete, October 1988. Over 60 contributors from all over the world participated in this conference, and their individual papers comprise the volume. Six sections include the following topics: muscular dystrophies, spinal muscular atrophies, m...
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Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion mutation located in the 3' untranslated portion of the dystrophica myotonin protein kinase gene. The identification and characterization of RNA-binding proteins that interact with expanded CUG repeats and the discovery that a similar transcribed but untranslated CCTG expansion in an intron causes myotonic dystrophy type 2 (DM2) have u...
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Autoimmune neuromuscular disorders affecting peripheral nerves, neuromuscular junction or muscle have a wide clinical spectrum with diverse pathogenetic mechanisms. Peripheral nervous system may be targeted in the context of complex immune reactions involving different cytokines, antigen-presenting cells, B cells and different types of T cells. Various immunomodulating and cytotoxic treatments ...
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ژورنال
عنوان ژورنال: Glycobiology
سال: 2003
ISSN: 1460-2423
DOI: 10.1093/glycob/cwg077