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… Expand

SummaryThe human apolipoprotein CII gene probe detects a restriction fragment length polymorphism located on chromosome 19. We… Expand

 

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

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

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

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

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

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