Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
作者信息
Henning Franclo, Naidu Kireshnee, Record Christopher J, Dominik Natalia, Vandrovcova Jana, Lubbe Frans, Dercksen Marli, Wilson Lindsay A, Van Der Westhuizen Francois, Reilly Mary M, Houlden Henry, Hanna Michael G, Carr Jonathan
机构信息
Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.
Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.
出版信息
Mov Disord Clin Pract. 2024 Oct;11(10):1298-1300. doi: 10.1002/mdc3.14178. Epub 2024 Aug 2.
Abstract
摘要
Zotero 插件