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Ann Clin Neurophysiol > Volume 6(1); 2004 > Article
Ann Clin Neurophysiol. 2004; 6(1): 61-63.
Atypical Correlation between CTG Repeat Size Variation and ClinicalManifestation in Brothers of Myotonic Dystrophy
Jung-Mee Kim, Eun-Kyoung Cho, Jeong-Seon Cho, Yong-Suk Choi, Young-Su Han, Jeong-Ho Han, and Doo-Eung Kim
Copyright © 2004 The Korean Society of Clinical Neurophysiology
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
The copy numbers of the CTG repeats are known to relate to the severity of clinical symptoms formyotonic dystrophy. The positive correlation between clinical manifestations and CTG repeat size hasbeen demonstrated previously. A genetically confirmed myotonic dystrophy patient with 90 CTG repeatnumber had more severe clinical manifestation than brother with 120 CTG repeats, in adulthood.
Key words: CTG repeat, Myotonic dystrophy
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