Milder Course in Duchenne Patients with Nonsense Mutations and No Muscle Dystrophin

Neuromuscular Disorders(2014)

Cited 30|Views1
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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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