Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations. Recessive missense variants have led to spastic paraplegia, and recessive truncations to sensory and autonomic neuropathy. De novo missense variants cause developmental delay or intellectual disabili...
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Full title
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4592090
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4592090
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2014.297
