A novel frameshift DDHD1 mutation in a patient with hereditary spastic paraplegia type 28: Case report and review of the literature

被引：1
|
作者：
Pinheiro, Rita Goncalo [1 ,7 ]
Rato, Miguel Leal [2 ,3 ]
Silva, Claudia Santos [2 ,4 ]
Soares, Marta P. [5 ]
Carvalho, Vanessa [2 ,6 ]
Guedes, Leonor Correia [2 ,6 ]
机构：
[1] Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, Amadora, Portugal
[2] Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurociencias & Saude Mental, Serv Neurol, Lisbon, Portugal
[3] Univ Lisbon, Inst Farmacol & Neurociencias, Fac Med, Lisbon, Portugal
[4] Univ Lisbon, Inst Fisiol, Fac Med, Lisbon, Portugal
[5] Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Pediat, Serv Genet Med, Lisbon, Portugal
[6] Univ Lisbon, Fac Med, Ctr Estudos Egas Moniz, Lisbon, Portugal
[7] Hosp Prof Doutor Fernando da Fonseca, Serv Neurol, IC19, P-2720276 Amadora, Portugal
来源：
PARKINSONISM & RELATED DISORDERS | 2024年 / 118卷
关键词：
Hereditary spastic paraplegia; DDHD1; HSP28; PARAPARESIS; DDHD1; FORM;
D O I：
10.1016/j.parkreldis.2023.105931
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
页数：4
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