title: Alternative splicing and muscular dystrophy.
abstract: Alternative splicing of pre-mRNAs is a major contributor to proteomic diversity and to the control of gene expression in higher eukaryotic cells. For this reasons, alternative splicing is tightly regulated in different tissues and developmental stages and its disruption can lead to a wide range of human disorders. The aim of this review is to focus on the relevance of alternative splicing for muscle function and muscle disease. We begin by giving a brief overview of alternative splicing, muscle-specific gene expression and muscular dystrophy. Next, to illustrate these concepts we focus on two muscular dystrophy, myotonic muscular dystrophy and facioscapulohumeral muscular dystrophy, both associated to disruption of splicing regulation in muscle.
authors.affiliation: Division of Regenerative Medicine, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Mariaelena
authors.initials: M
authors.lastname: Pistoni
authors.forename: Claudia
authors.initials: C
authors.lastname: Ghigna
authors.forename: Davide
authors.initials: D
authors.lastname: Gabellini
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000378:metabolism
chemical_list: D016601:RNA-Binding Proteins