Article
Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease-Robust Tools for Direct and Indirect Detection of the ATXN3 (CAG)n Repeat Expansion.
International journal of molecular sciences - 24 Jul 2024
Lian Mulias, Tan Vivienne J, Taguchi Riho, Zhao Mingjue, Phang Gui-Ping, Tan Arnold S, Liu Shuling, Lee Caroline G, Chong Samuel S
Abstract excerpt
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a neurodegenerative disorder caused by the ATXN3 CAG repeat expansion. Preimplantation genetic testing for monogenic disorders (PGT-M) of SCA3/MJD should include reliable repeat expansion detection coupled with high-risk allele determination using informative linked markers. One couple underwent SCA3/MJD PGT-M combining ATXN3 (CAG)n triplet-primed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.