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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Dettagli Bibliografici
Pubblicato in:Tremor Other Hyperkinet Mov (N Y)
Autori principali: Marchionni, Enrica, Méneret, Aurélie, Keren, Boris, Melki, Judith, Denier, Christian, Durr, Alexandra, Apartis, Emmanuelle, Boespflug-Tanguy, Odile, Mochel, Fanny
Natura: Artigo
Lingua:Inglês
Pubblicazione: Columbia University Libraries/Information Services 2019
Soggetti:
Case Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6692767/
https://ncbi.nlm.nih.gov/pubmed/31413903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/tohm.v0.641
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