Myoclonus-Dystonia plus Syndrome in a Patient Carrying a Novel TCF20 Variant

被引：0
作者：
Magistrelli, Luca [1 ]
Contaldi, Elena [1 ]
D'Alfonso, Sandra [2 ]
Corrado, Lucia [2 ]
机构：
[1] ASST G Pini CTO, Parkinson Inst Milan, Milan, Italy
[2] Univ Piemonte Orientale, Ctr Autoimmune & Allerg Dis CAAD, Dept Hlth Sci, Vercelli, Italy
来源：
MOVEMENT DISORDERS CLINICAL PRACTICE | 2025年 / 12卷 / 01期
关键词：
TCF20; variants; myoclonus dystonia; cognitive disability; neurodevelopmental disorders;
D O I：
10.1002/mdc3.14241
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：105 / 107
页数：3
相关论文
共 32 条
[31]   Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome:: paternal deletion of the epsilon-sarcoglycan (SGCE) gene [J].
Bonnet, C. ;
Gregoire, M. -J. ;
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Leheup, B. ;
Jonveaux, P. .
JOURNAL OF HUMAN GENETICS, 2008, 53 (10) :876-885
[32]   Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene [J].
C. Bonnet ;
M.-J. Grégoire ;
M. Vibert ;
E. Raffo ;
B. Leheup ;
P. Jonveaux .
Journal of Human Genetics, 2008, 53 :876-885
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