title: Molecular Diagnosis of Myotonic Dystrophy.
abstract: Myotonic dystrophy types 1 (DM1) and 2 (DM2) are autosomal dominant, microsatellite repeat expansion disorders that affect muscle function. Myotonic dystrophy type 1 is caused by CTG repeat expansion in the 3' UTR region of the DMPK gene. Patients with DM2 have expansion of CCTG repeats in intron 1 of the CNBP gene. In this unit, we review and discuss the clinical phenotypes, genetic mutations causing the diseases, and the molecular diagnostic approaches and tools that are used to determine repeat sizes in DM1/2. In summary, the goal of this chapter is to provide the reader with a basic understanding of the clinical, genetic and diagnostic aspects of these disorders. © 2016 by John Wiley & Sons, Inc.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Sujata
authors.initials: S
authors.lastname: Chakraborty
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Matteo
authors.initials: M
authors.lastname: Vatta
authors.affiliation: Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Linda L
authors.initials: LL
authors.lastname: Bachinski
authors.affiliation: Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, Texas.
authors.forename: Ralf
authors.initials: R
authors.lastname: Krahe
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Stephen
authors.initials: S
authors.lastname: Dlouhy
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
authors.forename: Shaochun
authors.initials: S
authors.lastname: Bai
mesh_terms: D006801:Humans; D009154:Mutation / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D057089:Pathology, Molecular / Q000379:methods*; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
keywords: CCTG repeat; CNBP; CTG repeat; DMPK; Myotonic dystrophy type 2; Southern Blot; myotonic dystrophy type 1; repeat-primed PCR (RP-PCR); triplet-repeat primed PCR (TP-PCR)