[S-08] Symposium 08「Oculopharyngodistal myopathy in Asian and Oceanian region」

[S-08-3] Oculopharyngodistal myopathy in China and its possible mechanism

Zhaoxia Wang (Department of Neurology, Peking University First Hospital)

Zhaoxia Wang is a clinical neurologist in the Department of Neurology, Peking University First Hospital. She studied Medicine at Beijing Medical University. Her major research interest is the molecular genetics of and neuromuscular disorders and mitochondrial disorder. she uses different technologies to define disease causing gene. By using the long-read sequencing combined with other genetic test, her team identified the CGG repeat expansions in GIPC1, NOTCH2NLC and RILPL1 as the genetic causes of oculopharyngodistal myopathy. She is also very interested in the development of invasive diagnostic biomarkers of Parkinsonism.