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BMJ Publishing Group, Journal of Medical Genetics, 9(33), p. 783-785, 1996

DOI: 10.1136/jmg.33.9.783

Elsevier, Neuromuscular Disorders, 2(6), p. S19

DOI: 10.1016/0960-8966(96)89005-5

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Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases.

Journal article published in 1996 by L. Martorell ORCID, I. Illa, J. Rosell, J. Benitez, M. J. Sedano, M. Cornet, M. Baiget
This paper is available in a repository.
This paper is available in a repository.

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Abstract

We report the clinical and molecular study of three unrelated homozygous myotonic dystrophy patients. In the first family, the homozygous patient shows the classical form of the disease with two DM alleles of very different expansion sizes (1000 and 60 repeats). In the second family, the homozygous patient is mildly affected and carries a minimally expanded allele (64 repeats) and a "normal" allele (38 repeats) that increases in size when transmitted. Such an intergenerational expansion of an allele in this range of repeats has not been reported to date. The third homozygous case has late onset bilateral cataracts as the only symptom. She has two minimally expanded alleles (51 and 120 repeats) that showed different intergenerational enlargement during transmission to the next generation.