Muscle dysfunction caused by loss of<i>Magel2</i>in a mouse model of Prader-Willi and Schaaf-Yang syndromes

Abstract excerpt

Prader-Willi syndrome is characterized by severe hypotonia in infancy, with decreased lean mass and increased fat mass in childhood followed by severe hyperphagia and consequent obesity. Scoliosis and other orthopaedic manifestations of hypotonia are common in children with Prader-Willi syndrome and cause significant morbidity. The relationships among hypotonia, reduced muscle mass and scoliosis have been...