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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker

1993; Massachusetts Medical Society; Volume: 328; Issue: 7 Linguagem: Inglês

10.1056/nejm199302183280704

1533-4406

Peggy Shelbourne, June Davies, Jessica L. Buxton, Maria Anvret, Elisabeth Blennow, M Bonduelle, Eric Schmedding, Ian Glass, R H Lindenbaum, Russell J.M. Lane, Robert Williamson, Keith Johnson,

Muscle Physiology and Disorders

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.