Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients.

@article{Davidovic2008AlterationOE,
  title={Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients.},
  author={Laetitia Davidovic and Sabrina Sacconi and Elias G. Bechara and S{\'e}verine Delplace and Maryline All{\'e}gra and Claude Desnuelle and Barbara Bardoni},
  journal={Journal of medical genetics},
  year={2008},
  volume={45 10},
  pages={679-85}
}
BACKGROUND The Fragile X Mental retardation-Related 1 (FXR1) gene belongs to the fragile X related family, that also includes the Fragile X Mental Retardation (FMR1) gene involved in fragile X syndrome, the most common form of inherited mental retardation. While the absence of FMRP impairs cognitive functions, inactivation of FXR1 has been reported to have drastic effects in mouse and xenopus myogenesis. Seven alternatively spliced FXR1 mRNA variants have been identified, three of them being… CONTINUE READING

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