| A Case of Facioscapulohumeral Muscular Dystrophy Confirmed by Genetic Analysis |
| Seok-Ho Lee, Chang-Seok Ki, Seung-Chul Lee, Jin-seok Park, Seong-Ho Koh, and Kyu-Yong Lee |
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| Copyright © 2008 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. |
| ABSTRACT |
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Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35. |
| Key words:
Facioscapulohumeral muscular dystrophy, D4Z4 repeat |
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