Milder Course in Duchenne Patients with Nonsense Mutations and No Muscle Dystrophin
Neuromuscular Disorders(2014)
Abstract
•Mildly affected DMD patients with nonsense mutations and dystrophin deficiency.•Mild DMD phenotype with no interference of reported modifiers polymorphisms.•It is possible to have a functional large muscle even without dystrophin.
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Key words
Duchenne dystrophy,Milder progression,Nonsense mutation,No dystrophin
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