Clinical Aspects of GNE Myopathy and Translational Medicine
Fig. 10.1 Annual changes in motor function. Right column, ambulant patients; left column, nonambulant patients. a 6MWT; b, c summed MMT; d, e grip power; and f, g %FVC. All…
MUSCULOSKELETAL MEDICINE
Stem Cell-Based Therapy for Duchenne Muscular Dystrophy
Fig. 8.1 Myoblast transplantation therapy (MMT) for DMD. Endogenous skeletal muscle satellite cells are located between the basal lamina and sarcolemma of myofibers in a dormant state. Upon muscle injury,…
Molecular Pathogenesis and Therapeutic Strategy in GNE Myopathy
Fig. 4.1 RV in GNE myopathy muscle. Bar 20 μm Fig. 4.2 Electron microscopic findings of GNE myopathy muscle. Autophagic vacuoles (black arrow head) are seen in the regions with various…
α-Dystroglycanopathy
Fig. 2.1 Schematic representation of the dystrophin-glycoprotein complex and dystroglycan Mutations in components of the DGC, such as dystrophin and sarcoglycans, were identified to be associated with Duchenne/Becker and limb-girdle…
Therapeutic Approach of iPS Cell Technology for Treating Muscular Dystrophy
© Springer Japan 2016Shin’ichi Takeda, Yuko Miyagoe-Suzuki and Madoka Mori-Yoshimura (eds.)Translational Research in Muscular Dystrophy10.1007/978-4-431-55678-7_9 9. Therapeutic Approach of iPS Cell Technology for Treating Muscular Dystrophy Hidetoshi Sakurai1 (1) Department of Clinical Application, Center for iPS Cell…
Translational Research in Nucleic Acid Therapies for Muscular Dystrophies
Fig. 6.1 Mechanism of exon skipping therapy in DMD and DYSF. The deletion of exon 52 in the DMD gene results in an out-of-frame transcript that does not produce functional…
Fukuyama Congenital Muscular Dystrophy: Clinical Aspects
Fig. 1.1 Facial appearance changes with age in a girl with FCMD; images were obtained at 7 months (A), at 1 year and 5 months (B), and at 8 years…
Toward Regenerative Medicine for Muscular Dystrophies
© Springer Japan 2016Shin’ichi Takeda, Yuko Miyagoe-Suzuki and Madoka Mori-Yoshimura (eds.)Translational Research in Muscular Dystrophy10.1007/978-4-431-55678-7_7 7. Toward Regenerative Medicine for Muscular Dystrophies Lessons from Regeneration Processes Akiyoshi Uezumi1 and So-ichiro Fukada2 (1) Division for Therapies Against Intractable Diseases,…
Targeting the Type I TGF-β Receptor for Treating Caveolin-3-Deficient Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1C and Muscle Wasting Disorders
Fig. 5.1 Caveolins regulate myostatin and related TGF-β signaling at the type I receptor level. (a) Schematic representation of myostatin and related TGF-β signaling and caveolin-3. Type I serine/threonine receptor…
Combined PCL, Posteromedial Corner, and Posterolateral Corner Reconstruction
Fig. 18.1 Illustration depicting the anatomy of the posteromedial structures of the knee. (From [43]. Reprinted with permission from Thieme Publishers) For the initial posteromedial approach to the knee, the…
