Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are d...

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Detalles Bibliográficos
Autores principales: Savić Pavićević, Dušanka, Miladinović, Jelena, Brkušanin, Miloš, Šviković, Saša, Djurica, Svetlana, Brajušković, Goran, Romac, Stanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613064/
https://www.ncbi.nlm.nih.gov/pubmed/23586035
http://dx.doi.org/10.1155/2013/391821

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