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

Journal of Clinical Neuroscience（2010）

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摘要

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.

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关键词

Neurology,Basic Neuroscience,DMPK,CTG repeat,SP-PCR

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