Parkinsonism with a double mutation p.L483P in GBA and p.S231P in LRRK2 following acute hypoxic insult

Yuting Tang,Lijian Wei,Zhuohua Wu,Pingyi Xu,Mingshu Mo

crossref（2022）

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摘要

A novel double mutation, c.1448T>A (p.L483P, rs421016) in GBA and c.691T>C (p.S231P, rs201332859) in LRRK2 was identified in a 69-year-old man with Parkinsonism who first developed bradykinesia and rigidity in neck at one month after acute hypoxia insult during mountaineering.

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