Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype

Servais L, Montus M, Guiner C, Ben Yaou R, Annoussamy M, Moraux A, Hogrel JY, Seferian AM, Zehrouni K, Le Moing AG, Gidaro T, Vanhulle C, Laugel V,Butoianu N, Cuisset JM, Sabouraud P, Cances C, Klein A, Leturcq F, Moullier P, Voit T.
Journal of Neuromuscular Diseases. 2015. 2(3):269-279.
Comparison of the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations.
DMD treatable by exon 53 skipping had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. MFM score were also lower, but the difference did not reach statistical significance.

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Keywords: Duchenne muscular dystrophy, exon skipping, outcome measures, phenotype-genotype correlation

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