The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.

CONCLUSION: These findings may broaden the phenotypic spectrums of RDP with mutations in the ATP1A3 gene, provide new insights into the diagnosis of RDP, and have implications for genetic counseling.
PMID: 33326973 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - December 16, 2020 Category: Neurology Authors: Yuan Y, Ran L, Lei L, Zhu H, Zhu X, Chen H Tags: Neurodegener Dis Source Type: research