We were pleased to contribute to this important study led by Michael Zech (Munich), in collaboration with Roberto Steiner (Padova/KCL), linking de novo mutations that disrupt kinesin-1 cargo recognition to the neurological movement disorder dystonia. www.thelancet.com/journals/ebi...
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features
Our research supports the existence of a kinesinopathy linked to KLC1, featuring phenotypic overlap with diseases related to mutational defects of key interactors of KLC1. The full dystonia de-novo va...
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