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Previous Volume 328:476-480 February 18, 1993 Number 7 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Myotonic dystrophy is a multisystem disorder that is transmitted in an autosomal dominant fashion and is characterized by muscular weakness and atrophy, clinical and electromyographic evidence of myotonia, ocular cataract, and various other abnormalities, such as cardiac conduction disturbances, testicular atrophy in males, premature balding, increased risk from anesthesia, and mental retardation in cases with early onset¹. It is the most common inherited muscular dystrophy of adulthood, with an incidence of approximately 1 per 7500 people. The clinical expression of myotonic dystrophy is variable, ranging from neonatal mortality to a complete absence of symptoms. Recently, the disorder has been . . . [Full Text of this Article]

Case Reports

Family 1

Family 2

Methods

Results

Discussion

Source Information

From the Departments of Human Genetics (H.G.B., W.N., M.R.N., B.A.O., H.-H.R., H.J.M.S.) and Cell Biology and Histology (G.J., B.W.), University Hospital and Medical Faculty, Nijmegen; and the Departments of Human Genetics (C.E.M.D.) and Neurology (C.J.H.), University Hospital, Maastricht -- both in the Netherlands.

Address reprint requests to Dr. Brunner at the Department of Human Genetics, University Hospital Nijmegen, P.O. Box 9101, 6500HB Nijmegen, the Netherlands.

References

This article has been cited by other articles:

• Kosmider, B., Wells, R. D. (2006). Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli. Nucleic Acids Res 34: 5369-5382 [Abstract] [Full Text]  
• Marcadier, J. L., Pearson, C. E. (2003). Fidelity of Primate Cell Repair of a Double-strand Break within a (CTG){middle dot}(CAG) Tract: EFFECT OF SLIPPED DNA STRUCTURES. J. Biol. Chem. 278: 33848-33856 [Abstract] [Full Text]  
• Amiel, J., Raclin, V., Jouannic, J.-M., Morichon, N., Hoffman-Radvanyi, H., Dommergues, M., Feingold, J., Munnich, A., Bonnefont, J.-P. (2001). Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy. J. Med. Genet. 38: 850-852 [Full Text]  
• Khajavi, M., Tari, A. M., Patel, N. B., Tsuji, K., Siwak, D. R., Meistrich, M. L., Terry, N. H. A., Ashizawa, T. (2001). 'Mitotic drive' of expanded CTG repeats in myotonic dystrophy type 1 (DM1). Hum Mol Genet 10: 855-863 [Abstract] [Full Text]  
• Margolis, R. L., McInnis, M. G., Rosenblatt, A., Ross, C. A. (1999). Trinucleotide Repeat Expansion and Neuropsychiatric Disease. Arch Gen Psychiatry 56: 1019-1031 [Abstract] [Full Text]  
• Monckton, D. G., Caskey, C. T. (1995). Unstable Triplet Repeat Diseases. Circulation 91: 513-520 [Abstract] [Full Text]  
• Ptacek, L. J., Johnson, K. J., Griggs, R. C. (1993). Genetics and Physiology of the Myotonic Muscle Disorders. NEJM 328: 482-489 [Full Text]