A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping

Walmsley, Gemma; Arechavala‐Gomeza, Virginia; Fernández-Fuente, Marta; Burke, Margaret; Nagel, Nicole; Holder, Angela; Stanley, Rachael; Chandler, Kate; L. Marks, Stanley; Muntoni, Francesco; Diane Shelton, G.; J. Piercy, Richard

doi:10.1371/journal.pone.0008647

Public

A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping

Published in PLoS ONE • Jan 12, 2010

Authors:

Gemma Walmsley

Virginia Arechavala‐Gomeza

Marta Fernández-Fuente

Abstract

BACKGROUND: Duchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Most affected patients have inherited or spontaneous deleti...

Subject

Exon

Duchenne muscular dystrophy

Dystrophin

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