6 research outputs found
Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA.
Other model organisms for sarcomeric muscle diseases.
International audienceModel organisms are vital to our understanding of human muscle biology and disease. The potential of the nematode Caenorhabditis elegans, the fruitfly, Drosophila melanogaster and the zebrafish, Danio rerio, as model genetic organisms for the study of human muscle disease is discussed by examining their muscle biology, muscle genetics and development. The powerful genetic tools available with each organism are outlined. It is concluded that these organisms have already demonstrated potential in facilitating the study of muscle disease and in screening for therapeutic agents