title: Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.
abstract: Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability. While progress in genetic testing has been made, more rapid, accurate, and cost-effective approaches for measuring repeat lengths are needed to establish clear correlations between repeat size and disease phenotypes.
authors.affiliation: Department of Biochemistry, University of Illinois, Urbana-Champaign, USA.
authors.forename: Kevin
authors.initials: K
authors.lastname: Yum
authors.affiliation: Department of Molecular Genetics & Microbiology, Center for Neurogenetics, University of Florida, Gainesville, FL 32610, USA. Electronic address: eric.t.wang@ufl.edu.
authors.forename: Eric T
authors.initials: ET
authors.lastname: Wang
authors.affiliation: Department of Biochemistry, University of Illinois, Urbana-Champaign, USA; Institute of Genomic Biology, University of Illinois, Urbana-Champaign, USA. Electronic address: kalsotra@illinois.edu.
authors.forename: Auinash
authors.initials: A
authors.lastname: Kalsotra
mesh_terms: D017668:Age of Onset; D005820:Genetic Testing; D006801:Humans; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000503:physiopathology; D019683:Penetrance; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*