Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia.

Ze-Hong ZhengChun-Yan CaoBi ChengRu-Ying YuanYi-Heng ZengZhang-Bao GuoYu-Sen QiuWen-Qi LvHui LiangJin-Lan LiWei-Xiong ZhangMin-Kun FangYu-Hao SunWei LinJing-Mei HongShi-Rui GanNing WangWan-Jin ChenGan-Qin DuLing Fang

Published in: Journal of human genetics (2024)

GAA-FGF14 ataxia was rare among Chinese LOCA cases. Parental gender appears to affect variability in GAA repeat number between generations. Reduced SSR amplitude is a prominent feature in GAA-FGF14 patients, even in the pre-symptomatic stage.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
early onset
machine learning
peritoneal dialysis
mental health
deep learning
gene expression