KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins

Background: KIF1C (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia. Case report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome se...

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Detalhes bibliográficos

Principais autores:	Enrica Marchionni, Aurélie Méneret, Boris Keren, Judith Melki, Christian Denier, Alexandra Durr, Emmanuelle Apartis, Odile Boespflug-Tanguy, Fanny Mochel
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Ubiquity Press 2019-07-01
coleção:	Tremor and Other Hyperkinetic Movements
Assuntos:	KIF1C dystonic tremor cerebellar ataxia hypomyelinating leukoencephalopathy
Acesso em linha:	https://tremorjournal.org/index.php/tremor/article/view/657/2327
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