Clinical and mechanism research progress on short tandem repeat ⁃ related neuromuscular diseases

Abstract

Short tandem repeat (STR) is a component of the human genome, the number of repeats of STR is prone to change during DNA replication, and when it exceeds a certain threshold, it will lead to the occurrence of diseases, most of which involve the nervous system. With the rapid development and wide application of the third generation long read long sequencing technology, more and more neuromuscular diseases have been confirmed to be related to STR variation. This article reviews the clinical and mechanism research progress on STR‑related neuromuscular diseases, so as to provide guidance for clinical research.

DOI: 10.3969/j.issn.1672⁃6731.2023.09.002