Article
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
Human molecular genetics - 15 Apr 2010
Braida Claudia, Stefanatos Rhoda K A, Adam Berit, Mahajan Navdeep, Smeets Hubert J M, Niel Florence, Goizet Cyril, Arveiler Benoit, Koenig Michel, Lagier-Tourenne Clotilde, Mandel Jean-Louis, Faber Catharina G, de Die-Smulders Christine E M, Spaans Frank, Monckton Darren G
Abstract excerpt
Myotonic dystrophy type 1 (DM1) is one of the most variable inherited human disorders. It is characterized by the involvement of multiple tissues and is caused by the expansion of a highly unstable CTG repeat. Variation in disease severity is partially accounted for by the number of CTG repeats inherited. However, the basis of the variable tissue-specific symptoms is unknown. We have determined that an unusual...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.