Dr. Barbé: The molecular mechanisms responsible for the onset and severity of repeat diseases, such
as myotonic dystrophy and Huntington's disease, are largely unknown.
Not exact matches
Myotonic dystrophy, also known
as Steinert disease, is the commonest adult form of muscular dystrophy.
For the first time, through the use of human embryonic stem cells (hES) sourced from pre-implantation diagnosis, researchers from Inserm's Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (I - Stem) have successfully identified the previously unknown mechanisms involved in Steinert» disease, also known
as type 1
myotonic dystrophy.
This specific disease of muscles appears to be found only in our breed and is now known medically
as Myotonia or
Myotonic Myopathy.