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Myotonic dystrophy gene
Papers overview
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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…
2004
2004
The apolipoprotein CII gene: Subchromosomal localisation and linkage to the myotonic dystrophy locus
SummaryThe human apolipoprotein CII gene probe detects a restriction fragment length polymorphism located on chromosome 19. We…
2001
1996
1996
DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract…
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…
Review
1995
Review
1995
Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder…
1994
1994
We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term…
1992
1992
Eye movement recording (EMR) has been performed in 5 asymptomatic myotonic dystrophy (MyD) gene carriers, 7 mildly affected MyD…
1983
1983
Clinicogenealogical examination of 63 patients with myotonic dystrophy as well as the electromyographic and muscular biopsy…