Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.

@article{Gaillard2014DifferentialDM,
  title={Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.},
  author={M. Gaillard and St{\'e}phane P Roche and Camille Dion and Armand Tasmadjian and Gwena{\"e}lle Bouget and Emmanuelle Salort-Campana and Catherine Vovan and Charl{\`e}ne Chaix and Natacha Broucqsault and Julia Morere and Francesca Puppo and Marc Bartoli and Nicolas L{\'e}vy and Rafa{\"e}lle Bernard and Shahram Attarian and Karine Nguyen and Fr{\'e}d{\'e}rique Magdinier},
  journal={Neurology},
  year={2014},
  volume={83 8},
  pages={733-42}
}
OBJECTIVE We investigated the link between DNA hypomethylation and clinical penetrance in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and heterogeneous in patients and could not thus far be correlated with disease presence or severity. METHODS To investigate the link between clinical signs of FSHD and DNA methylation, we explored 95 cases (37 FSHD1, 29 asymptomatic individuals carrying a shortened D4Z4 array, 9 patients with FSHD2, and 20 controls) by implementing… CONTINUE READING
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