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