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Article

Peripheral nerve pathology in VAPB-associated amyotrophic lateral sclerosis with dysautonomia in a Chinese family.

Clinical neuropathology - 1 Jan 2000

Guo Xuejun, Gang Qiang, Meng Lingchao, Li Jia, Li Fan, Liu Jing, Lv He, Wang Zhaoxia, Yuan Yun

Abstract excerpt

Mutations of the vesicle-associated membrane protein-associated protein B (VAPB) gene have been identified in familial amyotrophic lateral sclerosis (ALS) with dysautonomia. Here we report the peripheral nerve pathology in ALS with dysautonomia caused by the p.Pro56Ser mutation of the VAPB gene in a Chinese family. The clinical features in all patients were camptocormia, fasciculation, and weakness in all limbs....

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Identifiers

PMID: 32383641
DOI: 10.5414/NP301281

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