Clinical and Experimental Pediatrics

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Original Article

Neurology

Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1

Hyeong Jung Kim, Ji-Hoon Na, Young-Mock Lee

Clin Exp Pediatr. 2019;62(2):55-61. Published online September 23, 2018

Crossref 3

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 study aimed to determine whether the age of onset is correlated with CTG...

DOI: https://doi.org/10.3345/kjp.2018.06919

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