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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, Doo-Eung Kim
Journal of the Korean Society of Clinical Neurophysiology 2004;6(1):61-63.
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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.

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