300
Participants
Start Date
January 31, 2008
Primary Completion Date
December 31, 2038
Study Completion Date
December 31, 2038
Triplet-primed PCR or Long-read sequencing
This study involves long-read sequencing in patients with Myotonic Dystrophy Type 1 (DM1) to identify specific motifs, determine the range of repeat numbers, and assess the presence of interruptions in the CTG repeat sequence. The aim is to gain insights into the genetic variability and its clinical implications in DM1.
First Affiliated Hospital of Fujian Medical University, Fuzhou
First Affiliated Hospital of Fujian Medical University
OTHER