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. 2023 Mar 1;10(4):710-712.
doi: 10.1002/mdc3.13682. eCollection 2023 Apr.

Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder

Affiliations

Isolated Dystonia as an Initial Presentation of GDAP2-Related Disorder

Daniel G Di Luca et al. Mov Disord Clin Pract. .
No abstract available

Keywords: ataxia; dystonia; genetics.

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Figures

FIG. 1
FIG. 1
(A, B) Axial and sagittal brain magnetic resonance imaging showing mild cerebellar atrophy and suble gliosis in the subcortical white matter of the occipital lobes.

References

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    1. Eidhof I, Baets J, Kamsteeg EJ, Schenck A, van de Warrenburg BP. Reply: A homozygous GDAP2 loss‐of‐function variant in a patient with adult‐onset cerebellar ataxia; and novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia‐27 (SCAR27) in a Chinese family. Brain 2020;143:e51. - PMC - PubMed
    1. Dong HL, Cheng HL, Bai G, Shen Y, Wu ZY. Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia‐27 (SCAR27) in a Chinese family. Brain 2020;143:e50. - PubMed
    1. Breza M, Bourinaris T, Efthymiou S, et al. A homozygous GDAP2 loss‐of‐function variant in a patient with adult‐onset cerebellar ataxia. Brain 2020;143:e49. - PMC - PubMed
    1. Eidhof I, Baets J, Kamsteeg EJ, et al. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain 2018;141:2592–2604. - PMC - PubMed

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