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Editorial
. 2022 Jan:94:129-131.
doi: 10.1016/j.parkreldis.2022.01.012. Epub 2022 Jan 19.

A relatively common hypomorphic variant in WARS2 causes monogenic disease

Andreea Ilinca  1 , Efthymia Kafantari  1 , Andreas Puschmann  2
Affiliations
Editorial

A relatively common hypomorphic variant in WARS2 causes monogenic disease

Andreea Ilinca et al. Parkinsonism Relat Disord. 2022 Jan.
No abstract available

Keywords: Common variants; Dystonia; Early-onset Parkinson disease; Hypomorphic variants; Mendelian disease; Mitochondrial disease; Myoclonus; Rare variants; WARS2 c.833T>G; WARS2 c.938A>T; WARS2 p.(Lys313Met); WARS2 p.(Val278Gly).

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  • WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
    Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. Skorvanek M, et al. Parkinsonism Relat Disord. 2022 Jan;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 2. Parkinsonism Relat Disord. 2022. PMID: 34890876

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