Direct molecular diagnosis of myotonic dystrophy.


Myotonic dystrophy (DM) arises from an unstable trinucleotide (CTGn) repeat sequence within the DM locus at 19q13.3. Twenty-three myotonic dystrophy families containing 205 persons with no symptoms, minimal manifestations, classic DM or congenital DM were investigated to validate the application of the pM10M6 probe to direct molecular diagnosis. Affected… (More)


Cite this paper

@article{Hecht1993DirectMD, title={Direct molecular diagnosis of myotonic dystrophy.}, author={Barry Hecht and Andrew J Donnelly and Antoine G{\'e}d{\'e}on and Roger William Byard and Eric A. Haan and John C. Mulley}, journal={Clinical genetics}, year={1993}, volume={43 6}, pages={276-85} }