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Article

Molecular genetics and genetic testing in myotonic dystrophy type 1.

BioMed research international - 1 Jan 2013

Savić Pavićević Dušanka, Miladinović Jelena, Brkušanin Miloš, Šviković Saša, Djurica Svetlana, Brajušković Goran, Romac Stanka

Abstract excerpt

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 distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an...

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PMID: 23586035
DOI: 10.1155/2013/391821
PMCID: PMC3613064

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