Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR

Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR

Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease caused by expansion of a CTG trinucleotide repeat in the DMPK gene. Methodology for genetic testing of DM1 is currently not optimal, in particular for the early-onset patients in pediatric populations where large expanded...

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Bibliographic Details
Main Authors: Susmita eSingh, Amy eZhang, Stephen eDlouhy, Shaochun eBai
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-04-01
Series:Frontiers in Genetics
Subjects:
Myotonic dystrophy type 1 (DM1)
Trinucleotide repeat
CTG
Allelic expansion
Triplet-repeat Primed PCR
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00094/full

Internet

http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00094/full

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