Genetic & Genomic MedicineJournal of Internal MedicinePeer-reviewed
Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs
Martin Paucar, Daniel Nilsson, Martin Engvall…·Per Svenningsson
This study identifies a GGC expansion in the ZFHX3 gene as the cause of SCA4, associated with dysautonomia and motor neuron signs.
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