An alteration in the causative gene, dystrophia myotonica protein kinase (DMPK), leads to a toxic messenger RNA (mRNA) that participates in the sequestration of muscleblind-like (MBNL) proteins ...
Myotonic Dystrophy Type 1 (DM1) arises from an expanded microsatellite CTG repeat, (CTG)exp, in the Dystrophia Myotonica Protein Kinase (DMPK) gene. There are currently no treatments to slow disease ...
Carrying this mutated DMPK gene has a domino effect that alters ... The fetal heart predominantly expresses a fetal form of protein SCN5A. As the individual develops, the heart produces less ...