Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
反复出现的纯合ACTN2变异(p.Arg506Gly)会导致隐性遗传性肌病。
期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.51983
Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A; Dyment, David A; Sampson, Jacinda B; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A Reghan; Mammen, Andrew L; Wheeler, Matthew T; O'Donnell-Luria, Anne; Bönnemann, Carsten G