The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

The clinical manifestations of neuronal intranuclear inclusion disease (NIID) are heterogeneous, and the premortem diagnosis is mainly based on skin biopsy findings. Abnormal GGC repeat expansions in NOTCH2NLC was recently identified in familial and sporadic NIID. The comparison of diagnostic value...

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Bibliographic Details
Main Authors: Jie Pang, Jing Yang, Yanpeng Yuan, Yuan Gao, Changhe Shi, Shiheng Fan, Yuming Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Neurology
Subjects:
gene
leukoencephalopathy
headache
nuclear inclusion bodies
skin biopsy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.624321/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.624321/full

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