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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Bibliografske podrobnosti
Main Authors: Savić Pavićević, Dušanka, Miladinović, Jelena, Brkušanin, Miloš, Šviković, Saša, Djurica, Svetlana, Brajušković, Goran, Romac, Stanka
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2013
Teme:
Review Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3613064/
https://ncbi.nlm.nih.gov/pubmed/23586035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/391821
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