Myotonic Dystrophy (eBook, PDF)

Disease Mechanism, Current Management and Therapeutic Development
Redaktion: Takahashi, Masanori P.; Matsumura, Tsuyoshi

• Format: PDF

Produktbeschreibung

· Provides an overview while also connecting clinical and fundamental research achievements

· Introduces the molecular mechanisms within each organ and the resultant clinical features, especially focusing on central nervous system

· Addresses the latest topics such as research using patient-derived iPS cells and therapeutic research

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Produktdetails

• Verlag: Springer Nature Singapore
• Seitenzahl: 214
• Erscheinungstermin: 31. Oktober 2018
• Englisch
• ISBN-13: 9789811305085
• Artikelnr.: 54462320

Autorenporträt

Masanori P. Takahashi, M.D., Ph.D. Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Japan Tsuyoshi Matsumura, M.D., Ph.D. Department of Neurology, National Hospital Organization Toneyama National Hospital, Japan

Inhaltsangabe

Genetics of myotonic dystrophy (including cDM and DM2).- Basic Molecular pathomechanism.- Clinical features in skeletal muscle and their underlying molecular mechanism.- Clinical features in heart and their underlying molecular mechanism.- Clinical features of central nervous system.- Pathological changes in DM brain.- Molecular defect in DM central nervous system.- Respiratory feature in DM.- Glucose intolerance in DM.- Lipid metabolism in DM.- Dysphagia in DM.- DM patient-derived iPS cells.- Therapeutic development in DM.

Rezensionen

"This book is suitable for neuromuscular medicine subspecialists, healthcare providers involved in the care of myotonic dystrophy patients, and clinical basic science researchers. The book meets the needs of this audience. ... This book stands out as an excellent reference on myotonic dystrophy." (Eduardo De Sousa, Doody's Book Reviews, June 28, 2019)