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No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.

Nuria Goñi RosPaula Sienes BailoRicardo González TarancónLoreto Martorell SampolSilvia Izquierdo Álvarez
Published in: Advances in laboratory medicine (2023)
repeats leads to genetic anticipation where increased size of DM1 mutation and a more severe phenotype have been reported in affected individuals across generations. Even if extremely rare, a decrease in the CTG repeat size during transmission from parents to child can also occur, most frequently during paternal transmissions.
Keyphrases
  • mental health
  • early onset
  • genome wide
  • type diabetes
  • gene expression
  • skeletal muscle
  • insulin resistance