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...

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Detalles Bibliográficos
Autores principales: Kim, Hyeong Jung, Na, Ji-Hoon, Lee, Young-Mock
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Pediatric Society 2019
Materias:
Original Article
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

Internet

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

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