Article
Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2011
Witting Nanna, Duno Morten, Vissing John
Abstract excerpt
With the possible introduction of exon skipping therapy in Duchenne muscular dystrophy, it has become increasingly important to know the role of each exon of the dystrophin gene to protein expression, and thus the phenotype. In this report, we present two related men with an unusually mild BMD associated with an exon 26 deletion. The proband, a 23-year-old man, had slightly delayed motor milestones, walking 1 1/2...
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