Lavedan, C, Hofmann-Radvanyi, H, Shelbourne, P, Rabes, J P, Duros, C, Savoy, D, ...
Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has...
Lavedan, C, Hofmann-Radvanyi, H, Shelbourne, P, Rabes, J P, Duros, C, Savoy, D, ...
Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has...
Characteristics of Intergenerational Contractions of the CTG Repeat in Myotonic Dystrophy
Ashizawa, T., Anvret, M., Baiget, M., Barceló, J. M., Brunner, H., Cobo, A. M., ...
In myotonic dystrophy (DM), the size of a CTG repeat in the DM kinase gene generally increases in successive generations with clinical evidence of anticipation. However, there have also been cases...
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
Lavedan, C, Hofmann, H, Shelbourne, P, Duros, C, Savoy, D, Johnson, K, ...
We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI)...
Lavedan, C, Hofmann-Radvanyi, H, Boileau, C, Bonaïti-Pellié, C, Savoy, D, Shelbourne, P, ...
The molecular basis of myotonic dystrophy (DM) has been characterised. All DM mutations characterised to date appear as an unstable elongation of a fragment containing a tandem repeat of a CTG motif,...