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A single CAG or multiple CCG interruptions within the 5’ end of CTG repeat expansions are associated with contractions across generations and stabilization of the repeat in blood

Archive ouverte | Tomé, Stéphanie | CCSD

International audience

Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism

Archive ouverte | Tomé, Stéphanie | CCSD

International audience

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

Archive ouverte | Tomé, Stéphanie | CCSD

International audience. Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usua...

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