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Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

Archive ouverte | Rau, Frédérique | CCSD

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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Archive ouverte | Freyermuth, Fernande | CCSD

International audience. Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Ca...

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Archive ouverte | Ashizawa, Tetsuo | CCSD

International audience. Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists t...

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