Inherited skeletal muscle disorders.
The field of inherited skeletal muscle disease research has advanced rapidly since the identification of mutations in the dystrophin gene as the cause of Duchenne muscular dystrophy in 1987. From that point, an ever-increasing number of the genes associated with inherited muscle diseases have been identified. These discoveries have led to much more accurate diagnosis of the individual diseases and have allowed prenatal diagnosis where this was not previously possible. The major challenges for the future are to understand the pathophysiology of the diseases, now that the genes are being identified, and then to develop successful therapies.
Laing
N G
NG
University of Western Australia, QEII Medical Centre, Nedlands, Australia. nlaing@cyllene.uwa.edu.au
Mastaglia
F L
FL
D016189:Dystrophin / Q000235:genetics; D005260:Female; D006801:Humans; D008403:Mass Screening; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000503:physiopathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation; D011247:Pregnancy
D016189:Dystrophin; D009124:Muscle Proteins