KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
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United States: Columbia University Libraries/Information Services
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English
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United States: Columbia University Libraries/Information Services
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(Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia.
We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy. Whole exome sequencing identified a homozygous
variant in both patients.
variants can...
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KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins
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TN_cdi_doaj_primary_oai_doaj_org_article_a5ae91c4916e48d8b9c2cb4b79ca94dc
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a5ae91c4916e48d8b9c2cb4b79ca94dc
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E-ISSN
2160-8288
DOI
10.7916/tohm.v0.641
