累及成年男性,由位于X染色体上的UBA1基因突变所引起。其发病机制与UBA1中影响蛋氨酸-41 (p.Met41)的体细胞突变相关,UBA1是启动泛素化的主要E1酶。基因突变导致泛素化降低,并激活固有
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Z, Ma J, Qiao B, et al.[J]. Medicine, 2020, 99(32): e21454.[11]Murata K, Asano M, Matsumoto A, et al