Myotonic dystrophy gene

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… (More)

 

DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract… (More)

A major challenge in the study of a new genetic entity called triplet-repeat disease is to identify the role of triplet repeats… (More)

Steinert's disease or myotonic dystrophy is a heredo-degenerative neuroendocrinal dystrophy. It is an autosomal dominant disorder… (More)

We have re-examined an extended myotonic dystrophy (DM) family, previously described in 1955, in order to study the long term… (More)

Eye movement recording (EMR) has been performed in 5 asymptomatic myotonic dystrophy (MyD) gene carriers, 7 mildly affected MyD… (More)

The human apolipoprotein CII gene probe detects a restriction fragment length polymorphism located on chromosome 19. We have… (More)

Clinicogenealogical examination of 63 patients with myotonic dystrophy as well as the electromyographic and muscular biopsy… (More)