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Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2.
European Journal of Neurology ( IF 4.5 ) Pub Date : 2020-09-13 , DOI: 10.1111/ene.14530 J-J Xie 1 , W Ni 1 , Q Wei 1 , Z-Y Wu 1
European Journal of Neurology ( IF 4.5 ) Pub Date : 2020-09-13 , DOI: 10.1111/ene.14530 J-J Xie 1 , W Ni 1 , Q Wei 1 , Z-Y Wu 1
Affiliation
A novel pathogenic PYCR2 variant and corresponding brain images in two patients characterized by spastic paraplegia.
中文翻译:
痉挛性截瘫是两名携带 PYCR2 新型致病性变异的成年发病患者的唯一症状。
两名以痉挛性截瘫为特征的患者的新型致病性PYCR2变异和相应的脑图像。
更新日期:2020-09-13
中文翻译:
痉挛性截瘫是两名携带 PYCR2 新型致病性变异的成年发病患者的唯一症状。
两名以痉挛性截瘫为特征的患者的新型致病性PYCR2变异和相应的脑图像。