Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
在一个四代大家族中,SCA28 是一种罕见的显性遗传性共济失调,患者发病早、进展缓慢,并携带一种新的 AFG3L2 突变。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.40
Edener, Ulf; Wöllner, Janine; Hehr, Ute; Kohl, Zacharias; Schilling, Stefan; Kreuz, Friedmar; Bauer, Peter; Bernard, Veronica; Gillessen-Kaesbach, Gabriele; Zühlke, Christine