title: Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy.
abstract: CTG triplet repeats of "normal" length in the myotonic dystrophy protein kinase (DMPK) gene have been previously believed to be stable and new pathological expansion was not believed to occur. Here we report possible de novo CTG repeat expansion in the DMPK gene in a patient with cardiomyopathy, who was not diagnosed as having myotonic dystrophy type 1 (DM1) by conventional genetic tests.
authors.affiliation: First Department of Internal Medicine, Osaka Medical College, 2-7 Daigaku-cho, Takatsuki 569-8686, Japan. in1003@poh.osaka-med.ac.jp
authors.forename: Daisuke
authors.initials: D
authors.lastname: Furutama
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Negoro
authors.forename: Fumio
authors.initials: F
authors.lastname: Terasaki
authors.forename: Kuniko
authors.initials: K
authors.lastname: Tsuji-Matsuyama
authors.forename: Reiko
authors.initials: R
authors.lastname: Sakai
authors.forename: Tamaki
authors.initials: T
authors.lastname: Maeda
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Tanaka
authors.forename: Masaaki
authors.initials: M
authors.lastname: Hoshiga
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ishihara
authors.forename: Nakaaki
authors.initials: N
authors.lastname: Ohsawa
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Hanafusa
mesh_terms: D000368:Aged; D009202:Cardiomyopathies / Q000235:genetics*; D004452:Echocardiography / Q000379:methods; D005260:Female; D006801:Humans; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases