Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

Eitemau Tebyg

• High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations
  gan: Higham, Catherine
  Cyhoeddwyd: (2012)
• Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset
  gan: Morales Montero, Fernando
  Cyhoeddwyd: (2020)
• A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
  gan: Morales Montero, Fernando
  Cyhoeddwyd: (2016)
• Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1
  gan: Morales Montero, Fernando
  Cyhoeddwyd: (2023)
• MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
  gan: Flower, Michael
  Cyhoeddwyd: (2019)