Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals...
Read More »Sequencing Reveals Defective RNA Processing Linked to Cardiac Problems Seen in Myotonic Dystrophy
from Muscular Dystrophy News by Ines Martins – Researchers from the CNRS have discovered the molecular mechanisms responsible for the heart dysfunctions that mark myotonic dystrophy, and reported they appear to be linked to a defective processing of the cardiac sodium channel (SCN5A) ...
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