Advances in Duchenne and myotonic dystrophy.
In this exciting era in the investigation of the muscular dystrophies, we are now in the process of identifying how specific gene mutations cause the clinical features observed in patients. Between the gene defect and the disease symptoms lies altered protein expression, which directly affects the pathophysiology of disease progression. A specific gene defect has been identified for Duchenne and myotonic dystrophy, and we are now in the interesting stage of working out exactly how gene and protein expression are related to clinical phenotype.
Nicholson
L V
LV
Neurochemistry Department, Newcastle General Hospital, Newcastle-upon-Tyne, UK.
D000328:Adult; D002648:Child; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000628:therapy; D009154:Mutation / Q000235:genetics; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*