Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy

Daisuke Furutama; Nobuyuki Negoro; Fumio Terasaki; Kuniko Tsuji-Matsuyama; Reiko Sakai; Tamaki Maeda; Toshifumi Tanaka; Masaaki Hoshiga; Tadashi Ishihara; Nakaaki Ohsawa; Toshiaki Hanafusa

doi:10.1016/j.jocn.2009.06.010

Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy

J Clin Neurosci. 2010 Mar;17(3):408-9. doi: 10.1016/j.jocn.2009.06.010. Epub 2010 Jan 13.

Authors

Daisuke Furutama¹, Nobuyuki Negoro, Fumio Terasaki, Kuniko Tsuji-Matsuyama, Reiko Sakai, Tamaki Maeda, Toshifumi Tanaka, Masaaki Hoshiga, Tadashi Ishihara, Nakaaki Ohsawa, Toshiaki Hanafusa

Affiliation

¹ First Department of Internal Medicine, Osaka Medical College, 2-7 Daigaku-cho, Takatsuki 569-8686, Japan. in1003@poh.osaka-med.ac.jp

PMID: 20074967
DOI: 10.1016/j.jocn.2009.06.010

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.

Publication types

Case Reports

MeSH terms

Aged
Cardiomyopathies / genetics*
Echocardiography / methods
Female
Humans
Myotonin-Protein Kinase
Protein Serine-Threonine Kinases / genetics*
Trinucleotide Repeat Expansion / genetics*

Substances

DMPK protein, human
Myotonin-Protein Kinase
Protein Serine-Threonine Kinases