Myotonic Dystrophy: Accurately Scoring the Boundaries that Define Regions of Triplet Repeat Expansion Mutations
Philippa A. Dryland, Kimberley Hughes, Dug Yeo Han, Ann Aziz, Danqing Zhu, Elaine Doherty & Donald R. Love · Journal of Advances in Medicine and Medical Research · 2015
Aims: Myotonic Dystrophy type 1 (DM1) is an autosomal dominant neuromuscular multi-systemic disorder caused by a CTG triplet repeat expansion mutation in the DMPK gene. The clinical decision points defining the CTG repeat boundaries between normal, premutation and mild disease ra...
Open access
Research Article
10.9734/BJMMR/2015/18303