Extended Phenotype of <i>PEX11B</i> Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T

Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant

Published:2024-08-02 Issue: Volume: Page:
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Henning Franclo¹^ORCID,Naidu Kireshnee¹²,Record Christopher J.³⁴,Dominik Natalia³,Vandrovcova Jana³,Lubbe Frans⁵,Dercksen Marli⁶,Wilson Lindsay A.³,Van Der Westhuizen Francois⁶,Reilly Mary M.³⁴,Houlden Henry³⁴^ORCID,Hanna Michael G.³⁴,Carr Jonathan¹^ORCID,

Affiliation:

1. Division of Neurology, Department of Medicine Stellenbosch University Cape Town South Africa

2. Neurology Research Group, Division of Neurology, Department of Medicine University of Cape Town Cape Town South Africa

3. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology University College London London United Kingdom

4. Department of Neuromuscular Diseases The National Hospital for Neurology and Neurosurgery London United Kingdom

5. Neurology Private Practice Hermanus South Africa

6. Faculty of Natural and Agricultural Sciences, Focus Area for Human Metabolomics North‐West University Potchefstroom South Africa

Funder

Wellcome Trust

Muscular Dystrophy Association

Medical Research Foundation

Publisher

Wiley

Reference9 articles.

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4. Neuromuscular disease genetics in under-represented populations: increasing data diversity

5. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene