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Science 27 March 1987:
Vol. 235. no. 4796, pp. 1648 - 1650
DOI: 10.1126/science.3029876
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Articles

Science, Vol 235, Issue 4796, 1648-1650
Copyright © 1987 by American Association for the Advancement of Science

articles

A new probe for the diagnosis of myotonic muscular dystrophy

RJ Bartlett, MA Pericak-Vance, L Yamaoka, J Gilbert, M Herbstreith, WY Hung, JE Lee, T Mohandas, G Bruns, C Laberge, and al. et

Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker.
P. Shelbourne, J. Davies, J. Buxton, M. Anvret, E. Blennow, M. Bonduelle, E. Schmedding, I. Glass, R. Lindenbaum, R. Lane, et al. (1993)
N. Engl. J. Med. 328, 471-475
   Abstract »    Full Text »
Abnormalities of Aneural and Innervated Cultured Muscle Fibers From Patients With Myotonic Atrophy (Dystrophy).
T. Kobayashi, V. Askanas, K. Saito, W. K. Engel, and K. Ishikawa (1990)
Arch Neurol 47, 893-896
   Abstract »    PDF »
Allelic Association of Human Dopamine D2 Receptor Gene in Alcoholism.
K. Blum, E. P. Noble, P. J. Sheridan, A. Montgomery, T. Ritchie, P. Jagadeeswaran, H. Nogami, A. H. Briggs, and J. B. Cohn (1990)
JAMA 263, 2055-2060
   Abstract »    PDF »
The Molecular Genetic Revolution: Its Impact on Clinical Neurology.
C. S. Payne and A. D. Roses (1988)
Arch Neurol 45, 1366-1376
   Abstract »    PDF »
Molecular genetics: applications to the clinical neurosciences.
J. Martin (1987)
Science 238, 765-772
   Abstract »    PDF »


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