Article

High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve Analysis

2021-01-13

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often non-specific and overlapping with other disorders. Clinical genetic testing by Southern blot or triplet-primed PCR (TP-PCR) is technically challe...

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Literature Corpus work: ed3f2282-9f2f-505e-9077-f7b6918634c8
DOI: 10.1101/2021.01.11.21249609

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