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

Affiliations

• 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.