MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
MRPS25基因突变会损害线粒体翻译并导致脑肌病。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddz093
Bugiardini, Enrico; Mitchell, Alice L; Rosa, Ilaria Dalla; Horning-Do, Hue-Tran; Pitmann, Alan M; Poole, Olivia V; Holton, Janice L; Shah, Sachit; Woodward, Cathy; Hargreaves, Iain; Quinlivan, Rosaline; Amunts, Alexey; Wiesner, Rudolf J; Houlden, Henry; Holt, Ian J; Hanna, Michael G; Pitceathly, Robert D S; Spinazzola, Antonella