Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
ATP8A2 的隐性突变会导致严重的肌张力减退、认知障碍、运动过度运动障碍和进行性视神经萎缩
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-018-0825-3
Hugh J McMillan, Aida Telegrafi, Amanda Singleton, Megan T Cho, Daniel Lelli, Francis C Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E Erasmus, David A Koolen, Charlotte A Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Ya
