Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.

doi:10.3390/ijms24119241

Article

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.

International journal of molecular sciences - 25 May 2023

Torella Annalaura, Budillon Alberto, Zanobio Mariateresa, Del Vecchio Blanco Francesca, Picillo Esther, Politano Luisa, Nigro Vincenzo, Piluso Giulio

Abstract excerpt

Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be distinguished in infancy or early childhood. Accurate phenotype prediction based on DNA variants may therefore be required in addition to invasive tests, such as muscle...

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Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.

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Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.

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