| Description |
1 online resource (viii, 214 pages) |
| Contents |
Genetics of myotonic dystrophy -- Molecular mechanisms of myotonic dystrophy : RNA-mediated pathogenesis and RNA-binding proteins -- Clinical features of skeletal muscle and their underlying molecular mechanism -- Cardiac involvements in myotonic dystrophy -- Clinical features of the central nervous system -- Brain pathology in myotonic dystrophy -- Molecular defects in the DM central nervous system -- Respiratory feature in myotonic dystrophy -- Glucose intolerance in myotonic dystrophy -- Lipid metabolism in myotonic dystrophy -- Dysphagia in myotonic dystrophy -- Diasease modeling and drug development with DM1 patient-derived iPS cells -- Therapeutic development in myotonic dystrophy |
| Summary |
This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept: "RNA disease". Parallel to these advances in elucidating the pathophysiology, translational research is also progressing rapidly. The current challenge lies in assessing the effectiveness of treatment, and as such, there is a growing interest in observational studies of the disease's various clinical symptoms. The book introduces readers to the molecular mechanisms within each organ and the resultant clinical features, which are presented together. In particular, it focuses on the central nervous system, since the pathology of the brain (central nervous system manifestation) has rarely been addressed systematically and will pose a persistent challenge, even if therapies have greatly advanced in the future. In addition, the book addresses the latest developments, such as research using patient-derived iPS cells and therapeutic research. Myotonic Dystrophy provides essential information for neurologists and researchers with an interest in muscle disease, including muscular dystrophy. Furthermore, since the disease involves various complications of the brain, heart, metabolism, etc., the book will be of great value to clinicians and researchers in the cardiovascular sciences, endocrinology, diabetes, dementia, and neuropsychology, as well as genetic specialists |
| Bibliography |
Includes bibliographical references |
| Notes |
Online resource; title from PDF file page (EBSCO, viewed November 6, 2018) |
| Subject |
Myotonia atrophica.
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Myotonic Dystrophy
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Myotonia atrophica
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| Form |
Electronic book
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| Author |
Takahashi, Masanori P., editor
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Matsumura, Tsuyoshi, editor
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| ISBN |
9789811305085 |
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9811305080 |
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9789811344367 |
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9811344361 |
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