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CGG Repeat Expansion in NOTCH2NLC Causing Overlapping Oculopharyngodistal Myopathy and Neuronal Intranuclear Inclusion Disease with Diffusion Weighted Imaging Abnormality in the Cerebellum

Jing Ma,Huiqiu Zhang, Bing Meng,Jiangbo Qin,Hongye Liu,Xiaomin Pang,Rongjuan Zhao,Juan Wang,Junhong Guo,Wei Zhang

Journal of Clinical Neurology（2024）

Cited 0|Views3
Key words
oculopharyngodistal myopathy,NOTCH2NLC,CGG repeat expansion,neuronal intranuclear inclusion disease,DWI hyperintensity
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