A relatively common hypomorphic variant in WARS2 causes monogenic disease

被引：4

作者：

Ilinca, Andreea ^{[1
]}

Kafantari, Efthymia ^{[1
]}

Puschmann, Andreas ^{[1
]}

机构：

[1] Lund Univ, Skane Univ Hosp, Neurol, Lund, Sweden

来源：

PARKINSONISM & RELATED DISORDERS | 2022年 / 94卷

关键词：

Mitochondrial disease; Hypomorphic variants; Mendelian disease; Common variants; Rare variants; Early-onset Parkinson disease; Myoclonus; Dystonia; WARS2 p.(Val278Gly); WARS2 p.(Lys313Met);

D O I：

10.1016/j.parkreldis.2022.01.012

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：129 / 131

页数：3

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