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Myotonic dystrophy gene

 
National Institutes of Health

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Highly Cited
2009
Highly Cited
2009
Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3′ UTR of the DMPK gene. A length exceeding 50 CTG… Expand
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Highly Cited
2004
Highly Cited
2004
SummaryThe human apolipoprotein CII gene probe detects a restriction fragment length polymorphism located on chromosome 19. We… Expand
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  • table 1
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2001
2001
 
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1996
1996
DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract… Expand
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1996
1996
A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats… Expand
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Review
1995
Review
1995
Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder… Expand
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1994
1994
We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term… Expand
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1992
1992
Eye movement recording (EMR) has been performed in 5 asymptomatic myotonic dystrophy (MyD) gene carriers, 7 mildly affected MyD… Expand
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1983
1983
Clinicogenealogical examination of 63 patients with myotonic dystrophy as well as the electromyographic and muscular biopsy… Expand
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