Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1
Purpose Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK) gene. Our st...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2019-02-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://www.kjp.or.kr/upload/pdf/kjp-2018-06919.pdf |