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Article

OPTN variants in ALS cases: a case report of a novel mutation and literature review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2022

Mou Yan, Li Min, Liu Mengling, Wang Jia, Zhu Guofeng, Zha Yunhong

Abstract excerpt

INTRODUCTION: Optineurin (OPTN)-associated mutations have been implicated in the development of type 12 amyotrophic lateral sclerosis (ALS12). We reported a case of ALS with a new OPTN variant (p.D527fs) and reviewed relevant literature to better understand the phenotypes and pathophysiological mechanisms of ALS12. METHODS: We report a case of a 55-year-old female patient with a new heterozygous variant of the...

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PMID: 35661277
DOI: 10.1007/s10072-022-06125-5

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