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

F, Morales; JM, Couto; CF, Higham; G, Hogg; P, Cuenca; C, Braida; RH, Wilson; B, Adam; Valle G, del; R, Brian; M, Sittenfeld; T, Ashizawa; A, Wilcox; DE, Wilcox; DG, Monckton

doi:10.1093/hmg/dds185

Public

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

Shared by NobleBlocks on May 16, 2012 • 12:00 AM UTC

Authors:

Morales F

Couto JM

Higham CF

Abstract

Deciphering the contribution of genetic instability in somatic cells is critical to our understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such disorder that is caused by the expansion of a CTG repeat that shows extremely high levels of somatic instability. This somatic in...

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