Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy.
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.
Furutama
Daisuke
D
First Department of Internal Medicine, Osaka Medical College, 2-7 Daigaku-cho, Takatsuki 569-8686, Japan. in1003@poh.osaka-med.ac.jp
Negoro
Nobuyuki
N
Terasaki
Fumio
F
Tsuji-Matsuyama
Kuniko
K
Sakai
Reiko
R
Maeda
Tamaki
T
Tanaka
Toshifumi
T
Hoshiga
Masaaki
M
Ishihara
Tadashi
T
Ohsawa
Nakaaki
N
Hanafusa
Toshiaki
T
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*
C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases