Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
- 18 February 1993
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 328 (7) , 471-475
- https://doi.org/10.1056/nejm199302183280704
Abstract
Myotonic dystrophy is the most common inherited form of muscular dystrophy affecting adults. Its symptoms are not confined to muscle, and variability in their nature and in the patient's age at their onset can make diagnosis difficult. A specific unstable DNA sequence associated with myotonic dystrophy has recently been identified. We describe the use of a DNA probe (p5B1.4) that can detect this mutation directly, improving the accuracy and speed of diagnosis.Keywords
This publication has 14 references indexed in Scilit:
- Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.Journal of Medical Genetics, 1992
- Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotypeHuman Molecular Genetics, 1992
- Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the GeneScience, 1992
- Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family memberPublished by Elsevier ,1992
- Cloning of the essential myotonic dystrophy region and mapping of the putative defectNature, 1992
- Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophyNature, 1992
- Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophyNature, 1992
- Direct haplotyping by double digestion of PCR-amplified creatine kinase (CKMM): Application to myotonic dystrophy diagnosisGenomics, 1990
- A primary map of ten DNA markers and two serological markers for human chromosome 19Genomics, 1988
- A New Probe for the Diagnosis of Myotonic Muscular DystrophyScience, 1987