Incorrect diagnosis of myotonic dystrophy and its potential consequences revealed by subsequent direct genetic analysis.
- 1 May 1994
- journal article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 57 (5) , 662
- https://doi.org/10.1136/jnnp.57.5.662
Abstract
No abstract availableThis publication has 4 references indexed in Scilit:
- Clinical and genetic aspects of myotonic dystrophy.1993
- Instability versus predictability: the molecular diagnosis of myotonic dystrophy.Journal of Medical Genetics, 1992
- Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophyNature Genetics, 1992
- Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family memberPublished by Elsevier ,1992