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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia
Movement Disorders ( IF 7.4 ) Pub Date : 2021-10-11 , DOI: 10.1002/mds.28821
Derek E Neilson 1 , Michael Zech 2, 3 , Robert B Hufnagel 1 , Jesse Slone 1 , Xinjian Wang 1 , Shelli Homan 1 , Lisa M Gutzwiller 4 , Elizabeth J Leslie 5 , Nancy D Leslie 1 , Jianfeng Xiao 6 , Peter Hedera 7 , Mark S LeDoux 8 , Brian Gebelein 4 , Friederike Wilbert 9 , Matthias Eckenweiler 9 , Juliane Winkelmann 2, 3, 10, 11 , Donald L Gilbert 12 , Taosheng Huang 1
Affiliation  

In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31.

中文翻译:

与肌张力障碍和痉挛性截瘫相关的 ATP5MC3 的新变体

在一个具有痉挛性截瘫或肌张力障碍和常染色体显性遗传的不寻常表型的大型家系中,连锁分析先前将该疾病映射到染色体 2q24-2q31。
更新日期:2021-10-11
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