Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

@article{Magri2011GenotypeAP,
  title={Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up},
  author={Francesca Magri and Alessandra Govoni and Maria Grazia D’Angelo and Roberto Del Bo and Serena Ghezzi and Gandossini Sandra and Anna Carla Turconi and Monica Sciacco and Patrizia Ciscato and Andreina Bordoni and Silvana Tedeschi and Francesco Fortunato and Valeria Lucchini and Sara Bonato and Costanza Lamperti and Domenico Coviello and Yvan Torrente and Stefania Corti and M. Moggio and Nereo Bresolin and Giacomo Comi},
  journal={Journal of Neurology},
  year={2011},
  volume={258},
  pages={1610-1623}
}
Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation. We revised the main aspects of the natural history of dystrophinopathies to define genotype–phenotype correlations in large patient cohorts with extended follow-up… CONTINUE READING
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A (2009) In vivo comparison of 20-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

  • HA Heemskerk, CL de Winter, +6 authors Aartsma-Rus
  • J Gene Med
  • 2011
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