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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 s...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Korean Pediatric Society
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382962/ https://www.ncbi.nlm.nih.gov/pubmed/30304901 http://dx.doi.org/10.3345/kjp.2018.06919 |