BACKGROUND Over the past 3 years, the genetics of the myotonic diseases have been substantially elaborated. Three genetically different groups of myotonic disease can be discerned: (1) the chloride channel myotonias, (2) the adynamia-paramyotonia complex, and (3) myotonic dystrophy. METHODS AND RESULTS Electrophysiology has suggested and molecular biology has proven that the diseases belongin...

iv ACKNOWLEDGMENTS I wish first to express my sincere appreciation to Dr. Kathy Iovine, my graduate mentor. Your advice, guidance, understanding and constant support have shaped my graduate career to success. Thank you so much for being with me when I thought I could have failed the program. Thank you for thinking ahead and helping me to find the solution for the problems. Your expectations and...

The generation of induced pluripotent stem cells (iPSCs), especially the generation of patient-derived pluripotent stem cells (PSCs) suitable for disease modelling in vitro, opens the door for the potential translation of stem-cell related studies into the clinic. Successful replacement, or augmentation, of the function of damaged cells by patientderived differentiated stem cells would provide ...

Département des Sciences de l’Activité Physique, Faculté des Sciences, Université du Québec à Montréal, Montreal, QC, Canada, Groupe de Recherche en Activité Physique Adaptée, Montreal, QC, Canada, Centre de Recherche de l’Institut, Universitaire de Gériatrie de Montréal, Montreal, QC, Canada, Department of Kinesiology and Physical Education, McGill University, Montreal, QC, Canada, Meakins-Chr...

Structural and functional impairment of the skeletal system remains an important cause of morbidity and disability in patients with Cushing's syndrome (CS). Glucocorticoid (GC) excess inhibits bone formation and calcium absorption from the gut, increases bone resorption, and alters the secretion of gonadotropin and growth hormones, cytokines and growth factors influencing bone. Both overt and s...

Heart tissue injury may release cardiac enzymes into the circulation and elevate serum enzyme levels (LaDue, Wroblewski, and Karmen, 1954). Many enzymes become raised, but three enzymesaspartate aminotransferase (EC 2.6.1.1), creatine kinase (EC 2.7.3.2), and lactate dehydrogenase (EC 1.1.1.27)-have proved of particular diagnostic value. In addition, determination of lactate dehydrogenase isoen...

Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. There are currently very few specific therapeutic interventions to prevent, halt or modify skeletal dise...