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
early onset
chronic kidney disease
machine learning
prognostic factors
peritoneal dialysis
mental health
mitochondrial dna
deep learning
dna methylation
patient reported
copy number
neural network