GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies

doi:10.1212/wnl.0000000000013008

Article

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies

21 Oct 2021

Abstract excerpt

Background and Objectives The GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease (NIID), which may manifest with peripheral neuropathy. The aim of this study is to investigate its contribution to inherited neuropathy. Methods This cohort study screened patients with molecularly undiagnosed Charcot-Marie-Tooth disease...

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