1.
J Clin Neurosci
; 17(3): 408-9, 2010 Mar.
Article
in English
| MEDLINE
| ID: mdl-20074967
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.