Muscular dystrophies: genes to pathogenesis.
Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases.
Dalkilic
Isin
I
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA. isin_dalkilic@student.hms.harvard.edu
Kunkel
Louis M
LM
D000818:Animals; D003598:Cytoskeletal Proteins / Q000378:metabolism; D049030:Dystroglycans; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D049029:Dystrophin-Associated Proteins; D006801:Humans; D008562:Membrane Glycoproteins / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism; D009124:Muscle Proteins / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D009479:Neuropeptides / Q000378:metabolism
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D049029:Dystrophin-Associated Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009124:Muscle Proteins; D009479:Neuropeptides; C091824:syntrophin; D049030:Dystroglycans