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Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC

Bin Chen1,2, Jing Jing1,2,3, Gehong Dong4

  • 1Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, No.119 South 4Th Ring West Road, Fengtai District, Beijing, 100070, China.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|February 22, 2023
PubMed

Keywords:
Autonomic dysfunctionBiallelic GGC repeat expansionsDeep medullary veinsNOTCH2NLCNeuronal intranuclear inclusion disease

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