Exome Sequencing Identifies a DNAJB6 Mutation in a Family with Dominantly-Inherited Limb-Girdle Muscular Dystrophy

Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the “limb-girdle” muscles), although it is a heterogeneous disorder that can present with varying symptoms; there is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy ty...

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Main Authors: Couthouis, Julien, Raphael, Alya R., Siskind, Carly, Findlay, Andrew R., Buenrostro, Jason D., Greenleaf, William J., Vogel, Hannes, Day, John W., Flanigan, Kevin M., Gitler, Aaron D.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4013999/
https://ncbi.nlm.nih.gov/pubmed/24594375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2014.01.014
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