Article
Dystrophin and DNA diagnosis in a large pediatric muscle clinic.
Journal of child neurology - 1 Apr 1994
Richards S, Iannaccone S T
Abstract excerpt
Eighty-seven unrelated patients from a large muscle clinic setting were analyzed by DNA for deletions in the dystrophin gene for diagnosis of Duchenne/Becker muscular dystrophy. The clinical phenotype of the patient population included 72% Duchenne, 13% Becker, and 15% outlier patients. Dystrophin gene deletions were detected in 61% of these patients, and disease phenotype was predicted by DNA with an accuracy of...
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