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Case Reports
. 2024 Jun;11(6):746-748.
doi: 10.1002/mdc3.14025. Epub 2024 Mar 26.

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Cesar Chacaltana-Vinas  1 , Patricia Ramirez-Pajares  1   2 , Alid Manrique-Palomino  1 , Amanda R Clause  3 , Aditi Chawla  3 , Erin Thorpe  3 , Ryan Taft  3 , Andrea Rivera-Valdivia  1   4 , Elison Sarapura-Castro  1   4 , Jeny Bazalar-Montoya  1   5 , Mario Cornejo-Olivas  1   4
Affiliations
Case Reports

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Cesar Chacaltana-Vinas et al. Mov Disord Clin Pract. 2024 Jun.
No abstract available

Keywords: NADGP; Peruvian; neurodegeneration; recessive ataxia.

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Figures

Figure 1
Figure 1
Pedigree of the family affected with the c.1A > G (p.Met1?) mutation in SQSTM1 gene. The different colors represent the symptoms of affected family members. “+”: Positive test for a SQSTM1 c.1A > G variant, “−”: wild type.
See this image and copyright information in PMC

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