Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

被引：3
|
作者：
Wong, Wui-Kwan [1 ,2 ]
Troedson, Christopher [1 ]
Dale, Russell C. [2 ]
Roscioli, Tony [3 ,4 ,5 ,6 ]
Field, Michael [7 ]
Palmer, Elizabeth [4 ,8 ]
Martin, Ellenore M. [9 ]
Kumar, Kishore R. [10 ,11 ,12 ]
Mohammad, Shekeeb S. [1 ,2 ]
机构：
[1] Childrens Hosp Westmead, Nelson Dept Neurol & Neurosurg, Sydney, NSW, Australia
[2] Univ Sydney, Childrens Hosp, Westmead Clin Sch, Sydney Med,Sch Fac Med & Hlth, Westmead, NSW, Australia
[3] Prince Wales Hosp, Randwick Genom Lab, NSW Hlth Pathol, Sydney, NSW, Australia
[4] Sydney Childrens Hosp, Ctr Clin Genet, Randwick, NSW, Australia
[5] Univ New South Wales, Neurosci Res Australia NeuRA, Sydney, NSW, Australia
[6] Univ New South Wales, Prince Wales Clin Sch, Sydney, NSW, Australia
[7] Hunter Genet, Genet Learning Disabil GoLD Serv, Newcastle, NSW, Australia
[8] Univ New South Wales, Sch Womens & Childrens Hlth, Randwick, NSW, Australia
[9] Murdoch Childrens Res Inst, Brain & Mitochondria Res Grp, Melbourne, Vic, Australia
[10] Univ Sydney, Mol Med Lab, Concord Repatriat Gen Hosp, Concord Clin Sch, Sydney, NSW, Australia
[11] Univ Sydney, Neurol Dept, Concord Repatriat Gen Hosp, Concord Clin Sch, Sydney, NSW, Australia
[12] Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia
来源：
MOVEMENT DISORDERS CLINICAL PRACTICE | 2022年 / 9卷
关键词：
levodopa responsive dystonia-parkinsonism;
D O I：
10.1002/mdc3.13538
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：S32 / S35
页数：4
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