Myotonic Dystrophy Disease Mechanism, Current Management and Therapeutic Development /

• Corporate Author: SpringerLink (Online service)
• Other Authors: Takahashi, Masanori P. (Editor, http://id.loc.gov/vocabulary/relators/edt), Matsumura, Tsuyoshi (Editor, http://id.loc.gov/vocabulary/relators/edt)
• Format: Electronic eBook
• Language: English
• Published: Singapore : Springer Singapore : Imprint: Springer, 2018.
• Edition: 1st ed. 2018.
• Subjects: Neurology .; Cardiology.; Metabolic diseases.; Human genetics.; Neurology.; Metabolic Diseases.; Human Genetics.

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"...

Table of Contents:

• 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.