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Article

Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2021

Shibuya Kazumoto, Sawai Setsu, Sugiyama Atsuhiko, Koide Mizuho, Nishiyama Ayumi, Aoki Masashi, Kuwabara Satoshi

Abstract excerpt

We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS). In the present case, neuroimaging and laboratory studies were unremarkable, and...

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PMID: 32729725
DOI: 10.1080/21678421.2020.1797092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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