Article
Becker muscular dystrophy severity is linked to the structure of dystrophin.
Human molecular genetics - 1 Mar 2015
Nicolas Aurélie, Raguénès-Nicol Céline, Ben Yaou Rabah, Ameziane-Le Hir Sarah, Chéron Angélique, Vié Véronique, Claustres Mireille, Leturcq France, Delalande Olivier, Hubert Jean-François, Tuffery-Giraud Sylvie, Giudice Emmanuel, Le Rumeur Elisabeth
Abstract excerpt
In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of DMD. We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity observed in Becker patients and we studied four prevalent in-frame exon deletions, i.e. Δ45-47,...
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