GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

Yi-Heng ZengKang YangGan-Qin DuYi-Kun ChenChun-Yan CaoYu-Sen QiuJin HeHai-Dong LvQian-Qian QuJian-Nan ChenGuo-Rong XuLong ChenFu-Ze ZhengMiao ZhaoMin-Ting LinWan-Jin ChenJing HuZhi-Qiang WangNing Wang

Published in: Annals of neurology (2022)

Our findings implicate abnormal GGC repeat expansions in the promoter region of RILPL1 as a novel genetic cause for OPDM, and suggest a methylation mechanism and a potential RNA toxicity mechanism are involved in OPDM type 4 pathogenesis. ANN NEUROL 2022;92:512-526.

Keyphrases

dna methylation
genome wide
gene expression
oxidative stress
late onset
transcription factor
healthcare
copy number
human health
risk assessment
neural network